Canonical Allele Identifier: CA12786828
Gene:
MyVariant.info:
GRCh38 chr8:g.23726713G>T
GRCh37 chr8:g.23584226G>T
gnomAD v2:
8:23584226 G / T
gnomAD v3:
8:23726713 G / T
gnomAD v4:
chr8-23726713-G-T
Joint Max Group AF 0.32349467 (SAS)
Genomes Max Group AF 0.32335645 (SAS)
Exomes Max Group AF 0.11308136 (NFE)
dbSNP:
13273073
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23726713G>T , CM000670.2:g.23726713G>T GRCh38
NC_000008.10:g.23584226G>T , CM000670.1:g.23584226G>T GRCh37
NC_000008.9:g.23640171G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_247144.3:n.139-102C>A
XR_949587.1:n.138-102C>A
XR_001745838.1:n.178C>A
XR_001745839.1:n.154-102C>A
XR_001745842.1:n.1312+57963G>T
XR_247144.4:n.154-102C>A
XR_949587.2:n.154-102C>A
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