Canonical Allele Identifier: CA114999
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 1412
ClinVar RCV Id: RCV000001477 RCV002512643
dbSNP Id: rs121912611
ExAC: 3:164737520 T / G
gnomAD v2: 3-164737520-T-G
gnomAD v3: 3-165019732-T-G
gnomAD v4: 3-165019732-T-G
MyVariant Identifiers: chr3:g.164737520T>G (hg19) chr3:g.165019732T>G (hg38)
PubMed: PMID:8609217
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165019732T>G , CM000665.2:g.165019732T>G GRCh38
NC_000003.11:g.164737520T>G , CM000665.1:g.164737520T>G GRCh37
NC_000003.10:g.166220214T>G NCBI36
NG_017043.1:g.63764A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.3293A>C MANE Select ENSP00000264382.3:p.Gln1098Pro
ENST00000264382.7:c.3293A>C ENSP00000264382.3:p.Gln1098Pro
NM_001041.3:c.3293A>C NP_001032.2:p.Gln1098Pro
XM_011513078.1:c.3194A>C XP_011511380.1:p.Gln1065Pro
XM_011513078.2:c.3194A>C XP_011511380.1:p.Gln1065Pro
NM_001041.4:c.3293A>C MANE Select NP_001032.2:p.Gln1098Pro
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