Canonical Allele Identifier: CA2689876
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 2096918
ClinVar RCV Id: RCV003016426
dbSNP Id: rs561697975
ExAC: 3:164714559 A / G
gnomAD v2: 3-164714559-A-G
gnomAD v3: 3-164996771-A-G
gnomAD v4: 3-164996771-A-G
MyVariant Identifiers: chr3:g.164714559A>G (hg19) chr3:g.164996771A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996771A>G , CM000665.2:g.164996771A>G GRCh38
NC_000003.11:g.164714559A>G , CM000665.1:g.164714559A>G GRCh37
NC_000003.10:g.166197253A>G NCBI36
NG_017043.1:g.86725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4542T>C MANE Select ENSP00000264382.3:p.Gly1514=
ENST00000264382.7:c.4542T>C ENSP00000264382.3:p.Gly1514=
NM_001041.3:c.4542T>C NP_001032.2:p.Gly1514=
XM_011513078.1:c.4443T>C XP_011511380.1:p.Gly1481=
XM_011513078.2:c.4443T>C XP_011511380.1:p.Gly1481=
NM_001041.4:c.4542T>C MANE Select NP_001032.2:p.Gly1514=
Search 100 bp 5'
Search 100 bp 3'