Canonical Allele Identifier:
CA1113875996
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.52772301T>A , CM000670.2:g.52772301T>A | GRCh38 |
| NC_000008.10:g.53684861T>A , CM000670.1:g.53684861T>A | GRCh37 |
| NC_000008.9:g.53847414T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928875.1:n.687+2206T>A | ||
| XR_928876.1:n.1042+2206T>A | ||
| XR_001745898.1:n.685+2206T>A |