Canonical Allele Identifier: CA12154514
Gene:
COSMIC:
COSN6585926 (not active)
MyVariant.info:
GRCh38 chr5:g.40323836A>G
GRCh37 chr5:g.40323938A>G
gnomAD v2:
5:40323938 A / G
gnomAD v3:
5:40323836 A / G
gnomAD v4:
chr5-40323836-A-G
Joint Max Group AF 0.83409427 (EAS)
Genomes Max Group AF 0.83409427 (EAS)
dbSNP:
348594
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40323836A>G , CM000667.2:g.40323836A>G GRCh38
NC_000005.9:g.40323938A>G , CM000667.1:g.40323938A>G GRCh37
NC_000005.8:g.40359695A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925937.1:n.250+3612T>C
XR_925940.1:n.250+3612T>C
XR_001742647.1:n.204+3612T>C
XR_001742649.1:n.204+3612T>C
XR_925938.2:n.204+3612T>C
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