Canonical Allele Identifier: CA11932763
Gene:
COSMIC:
COSN14788107 (not active)
MyVariant.info:
GRCh38 chr5:g.73255307A>G
GRCh37 chr5:g.72551134A>G
gnomAD v2:
5:72551134 A / G
gnomAD v3:
5:73255307 A / G
gnomAD v4:
chr5-73255307-A-G
Joint Max Group AF 0.52192643 (AFR)
Genomes Max Group AF 0.52192643 (AFR)
dbSNP:
7702331
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.73255307A>G , CM000667.2:g.73255307A>G GRCh38
NC_000005.9:g.72551134A>G , CM000667.1:g.72551134A>G GRCh37
NC_000005.8:g.72586890A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948470.1:n.316-8651T>C
XR_948470.2:n.286-8651T>C
Search 100 bp 5'
Search 100 bp 3'