Canonical Allele Identifier: CA12232622
Gene:

Linked Data

dbSNP Id: rs2274459
gnomAD v2: 6-33762242-G-A
gnomAD v3: 6-33794465-G-A
gnomAD v4: 6-33794465-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33794465G>A , CM000668.2:g.33794465G>A GRCh38
NC_000006.11:g.33762242G>A , CM000668.1:g.33762242G>A GRCh37
NC_000006.10:g.33870220G>A NCBI36
NG_053042.1:g.4810C>T

Transcript Alleles

HGVS Amino-acid change
XR_926707.1:n.1443+1310G>A
XR_926708.1:n.227+1310G>A
XR_926709.1:n.1443+1310G>A
XR_001744088.1:n.81+1310G>A
XR_926707.2:n.81+1310G>A