Canonical Allele Identifier: CA1087465239
Gene:

Linked Data

dbSNP Id: rs1761781175
gnomAD v3: 6-31439818-C-A
gnomAD v4: 6-31439818-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439818C>A , CM000668.2:g.31439818C>A GRCh38
NC_000006.11:g.31407595C>A , CM000668.1:g.31407595C>A GRCh37
NC_000006.10:g.31515574C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.289G>T