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中文
这个描述的变异发生在人类染色体17的第38个v38位(等同于基因座74,445,630)，或者在GenBank的NC_000083基因组区域的第13,514位。在mRNA序列NM_001033367的第4个外显子中，这个变化对应于第1,973位的氨基酸，从异亮氨酸(I)变为丝氨酸(T)，即I586T的替换。(参考文献：J:225933)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
