Canonical Allele Identifier: CA12221551
Gene:
MyVariant.info:
GRCh38 chr6:g.1573378G>A
GRCh37 chr6:g.1573613G>A
gnomAD v2:
6:1573613 G / A
gnomAD v3:
6:1573378 G / A
gnomAD v4:
chr6-1573378-G-A
Joint Max Group AF 0.43662063 (AMR)
Genomes Max Group AF 0.43662063 (AMR)
dbSNP:
2338
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1573378G>A , CM000668.2:g.1573378G>A GRCh38
NC_000006.11:g.1573613G>A , CM000668.1:g.1573613G>A GRCh37
NC_000006.10:g.1518612G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743924.1:n.86+6841C>T
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