Canonical Allele Identifier:
CA1120530467
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2194227C>A , CM000671.2:g.2194227C>A | GRCh38 |
| NC_000009.11:g.2194227C>A , CM000671.1:g.2194227C>A | GRCh37 |
| NC_000009.10:g.2184227C>A | NCBI36 |
| NG_032162.1:g.183886C>A | |
| NG_032162.2:g.218938C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746600.1:n.1362-13205G>T | ||
| XR_001746601.1:n.1316-13205G>T |