Canonical Allele Identifier: CA113736840
Gene:
MyVariant.info:
GRCh38 chr5:g.6767199T>G
GRCh37 chr5:g.6767312T>G
gnomAD v2:
5:6767312 T / G
gnomAD v3:
5:6767199 T / G
gnomAD v4:
chr5-6767199-T-G
Joint Max Group AF 0.11291563 (AFR)
Genomes Max Group AF 0.11291563 (AFR)
dbSNP:
12520016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6767199T>G , CM000667.2:g.6767199T>G GRCh38
NC_000005.9:g.6767312T>G , CM000667.1:g.6767312T>G GRCh37
NC_000005.8:g.6820312T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925739.1:n.72+1218T>G
XR_925739.2:n.395+1218T>G
Search 100 bp 5'
Search 100 bp 3'