Canonical Allele Identifier: CA13622505
Gene:
MyVariant.info:
GRCh38 chr12:g.56983563C>T
GRCh37 chr12:g.57377347C>T
gnomAD v2:
12:57377347 C / T
gnomAD v3:
12:56983563 C / T
gnomAD v4:
chr12-56983563-C-T
Joint Max Group AF 0.34040065 (NFE)
Genomes Max Group AF 0.34055763 (NFE)
Exomes Max Group AF 0.29729871 (NFE)
dbSNP:
4759042
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56983563C>T , CM000674.2:g.56983563C>T GRCh38
NC_000012.11:g.57377347C>T , CM000674.1:g.57377347C>T GRCh37
NC_000012.10:g.55663614C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000611536.1:n.530G>A
Search 100 bp 5'
Search 100 bp 3'