Canonical Allele Identifier: CA2689641
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.164987225G>A
GRCh37 chr3:g.164705013G>A
gnomAD v2:
3:164705013 G / A
gnomAD v3:
3:164987225 G / A
gnomAD v4:
chr3-164987225-G-A
Joint Max Group AF 0.00001748 (AFR)
Genomes Max Group AF 0.00001923 (AFR)
Exomes Max Group AF 0.00001216 (NFE)
ClinVar RCV:
RCV000255674
RCV000778683
ClinVar Variation:
265618
dbSNP:
779803851
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164987225G>A , CM000665.2:g.164987225G>A GRCh38
NC_000003.11:g.164705013G>A , CM000665.1:g.164705013G>A GRCh37
NC_000003.10:g.166187707G>A NCBI36
NG_017043.1:g.96271C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.5110C>T MANE Select ENSP00000264382.3:p.Arg1704Ter
ENST00000264382.7:c.5110C>T ENSP00000264382.3:p.Arg1704Ter
NM_001041.3:c.5110C>T NP_001032.2:p.Arg1704Ter
XM_011513078.1:c.5011C>T XP_011511380.1:p.Arg1671Ter
XM_011513078.2:c.5011C>T XP_011511380.1:p.Arg1671Ter
NM_001041.4:c.5110C>T MANE Select NP_001032.2:p.Arg1704Ter
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