Canonical Allele Identifier: CA15440033
Gene:

Linked Data

dbSNP Id: rs3094738
gnomAD v2: 6-31407913-G-A
gnomAD v3: 6-31440136-G-A
gnomAD v4: 6-31440136-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440136G>A , CM000668.2:g.31440136G>A GRCh38
NC_000006.11:g.31407913G>A , CM000668.1:g.31407913G>A GRCh37
NC_000006.10:g.31515892G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-84C>T