Canonical Allele Identifier: CA86497779
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 1461953
ClinVar RCV Id: RCV001985575 RCV002492146
dbSNP Id: rs889224862
gnomAD v2: 3-164786868-A-G
gnomAD v4: 3-165069080-A-G
MyVariant Identifiers: chr3:g.164786868A>G (hg19) chr3:g.165069080A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069080A>G , CM000665.2:g.165069080A>G GRCh38
NC_000003.11:g.164786868A>G , CM000665.1:g.164786868A>G GRCh37
NC_000003.10:g.166269562A>G NCBI36
NG_017043.1:g.14416T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.371T>C MANE Select ENSP00000264382.3:p.Ile124Thr
ENST00000264382.7:c.371T>C ENSP00000264382.3:p.Ile124Thr
ENST00000476593.1:c.*246T>C ENSP00000419450.1:n.*246T>C
NM_001041.3:c.371T>C NP_001032.2:p.Ile124Thr
XM_011513078.1:c.272T>C XP_011511380.1:p.Ile91Thr
XM_011513078.2:c.272T>C XP_011511380.1:p.Ile91Thr
NM_001041.4:c.371T>C MANE Select NP_001032.2:p.Ile124Thr
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