Canonical Allele Identifier: CA2691018
Gene: SI HGNC NCBI
COSMIC:
COSM277268
MyVariant.info:
GRCh38 chr3:g.165049801C>T
GRCh37 chr3:g.164767589C>T
gnomAD v2:
3:164767589 C / T
gnomAD v3:
3:165049801 C / T
gnomAD v4:
chr3-165049801-C-T
Joint Max Group AF 0.00079656 (EAS)
Genomes Max Group AF 0.00028305 (SAS)
Exomes Max Group AF 0.00083459 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165049801C>T , CM000665.2:g.165049801C>T GRCh38
NC_000003.11:g.164767589C>T , CM000665.1:g.164767589C>T GRCh37
NC_000003.10:g.166250283C>T NCBI36
NG_017043.1:g.33695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1587G>A MANE Select ENSP00000264382.3:p.Pro529=
ENST00000264382.7:c.1587G>A ENSP00000264382.3:p.Pro529=
NM_001041.3:c.1587G>A NP_001032.2:p.Pro529=
XM_011513078.1:c.1488G>A XP_011511380.1:p.Pro496=
XM_011513078.2:c.1488G>A XP_011511380.1:p.Pro496=
NM_001041.4:c.1587G>A MANE Select NP_001032.2:p.Pro529=
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