Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851793G>A , CM000671.2:g.97851793G>A | GRCh38 |
| NC_000009.11:g.100614075G>A , CM000671.1:g.100614075G>A | GRCh37 |
| NC_000009.10:g.99653896G>A | NCBI36 |
| NG_011979.1:g.3539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+1083C>T | ||
| XR_930159.1:n.218+1083C>T | ||
| XR_930160.1:n.218+1083C>T | ||
| XR_930161.1:n.218+1083C>T | ||
| NR_147055.1:n.165+1123C>T |