Canonical Allele Identifier: CA113736832
Gene:
MyVariant.info:
GRCh38 chr5:g.6767199T>A
GRCh37 chr5:g.6767312T>A
gnomAD v2:
5:6767312 T / A
gnomAD v3:
5:6767199 T / A
gnomAD v4:
chr5-6767199-T-A
Joint Max Group AF 0.00006304 (AFR)
Genomes Max Group AF 0.00006304 (AFR)
dbSNP:
12520016
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Genomic Alleles

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

Transcript Alleles

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