Canonical Allele Identifier:
CA1094418913
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129540247T>A , CM000668.2:g.129540247T>A | GRCh38 |
| NC_000006.11:g.129861392T>A , CM000668.1:g.129861392T>A | GRCh37 |
| NC_000006.10:g.129903085T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942984.1:n.726+200A>T | ||
| XR_942985.1:n.590+200A>T | ||
| XR_001743859.1:n.682+200A>T | ||
| XR_001743860.1:n.682+200A>T | ||
| XR_001743861.1:n.682+200A>T | ||
| XR_001743863.1:n.682+200A>T | ||
| XR_002956395.1:n.5839+200A>T |