Canonical Allele Identifier: CA12426592
Gene:

Linked Data

dbSNP Id: rs2524276
gnomAD v2: 6-31408265-C-A
gnomAD v3: 6-31440488-C-A
gnomAD v4: 6-31440488-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440488C>A , CM000668.2:g.31440488C>A GRCh38
NC_000006.11:g.31408265C>A , CM000668.1:g.31408265C>A GRCh37
NC_000006.10:g.31516244C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.54+372G>T