Canonical Allele Identifier: CA115005
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 1418
ClinVar RCV Id: RCV000001483 RCV000481721 RCV003415621
dbSNP Id: rs121912615
ExAC: 3:164764786 A / C
gnomAD v2: 3-164764786-A-C
gnomAD v3: 3-165046998-A-C
gnomAD v4: 3-165046998-A-C
MyVariant Identifiers: chr3:g.164764786A>C (hg19) chr3:g.165046998A>C (hg38)
PubMed: PMID:16329100 PMID:19121318 PMID:23103650 PMID:26812950 PMID:26857124 PMID:27749612
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046998A>C , CM000665.2:g.165046998A>C GRCh38
NC_000003.11:g.164764786A>C , CM000665.1:g.164764786A>C GRCh37
NC_000003.10:g.166247480A>C NCBI36
NG_017043.1:g.36498T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1730T>G MANE Select ENSP00000264382.3:p.Val577Gly
ENST00000264382.7:c.1730T>G ENSP00000264382.3:p.Val577Gly
NM_001041.3:c.1730T>G NP_001032.2:p.Val577Gly
XM_011513078.1:c.1631T>G XP_011511380.1:p.Val544Gly
XM_011513078.2:c.1631T>G XP_011511380.1:p.Val544Gly
NM_001041.4:c.1730T>G MANE Select NP_001032.2:p.Val577Gly
Search 100 bp 5'
Search 100 bp 3'