Canonical Allele Identifier: CA2750047
Gene: SST HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.187669043T>C
GRCh37 chr3:g.187386831T>C
gnomAD v2:
3:187386831 T / C
gnomAD v3:
3:187669043 T / C
gnomAD v4:
chr3-187669043-T-C
Joint Max Group AF 0.18062358 (AMR)
Genomes Max Group AF 0.16212834 (AMR)
Exomes Max Group AF 0.18556841 (AMR)
dbSNP:
4988514
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.187669043T>C , CM000665.2:g.187669043T>C GRCh38
NC_000003.11:g.187386831T>C , CM000665.1:g.187386831T>C GRCh37
NC_000003.10:g.188869525T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000287641.4:c.*22A>G MANE Select ENSP00000287641.3:n.*22A>G
ENST00000287641.3:c.*22A>G ENSP00000287641.3:n.*22A>G
NM_001048.3:c.*22A>G NP_001039.1:n.*22A>G
NM_001048.4:c.*22A>G MANE Select NP_001039.1:n.*22A>G
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