Canonical Allele Identifier:
CA1117236650
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101215695A>T , CM000670.2:g.101215695A>T | GRCh38 |
| NC_000008.10:g.102227923A>T , CM000670.1:g.102227923A>T | GRCh37 |
| NC_000008.9:g.102297099A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011517414.1:c.-277+1270A>T | XP_011515716.1:n.-277+1270A>T | |
| XM_011517415.1:c.-41+1270A>T | XP_011515717.1:n.-41+1270A>T | |
| XM_011517417.1:c.-54+1270A>T | XP_011515719.1:n.-54+1270A>T | |
| XR_928468.1:n.395+1270A>T | ||
| XR_928469.1:n.395+1270A>T | ||
| XR_928468.2:n.667+1270A>T | ||
| XR_928469.2:n.667+1270A>T |