Canonical Allele Identifier: CA11969390
Gene:
MyVariant.info:
GRCh38 chr5:g.56900777G>A
GRCh37 chr5:g.56196604G>A
gnomAD v2:
5:56196604 G / A
gnomAD v3:
5:56900777 G / A
gnomAD v4:
chr5-56900777-G-A
Joint Max Group AF 0.73575623 (NFE)
Genomes Max Group AF 0.73575623 (NFE)
dbSNP:
96844
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56900777G>A , CM000667.2:g.56900777G>A GRCh38
NC_000005.9:g.56196604G>A , CM000667.1:g.56196604G>A GRCh37
NC_000005.8:g.56232361G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948346.1:n.83-2481C>T
Search 100 bp 5'
Search 100 bp 3'