Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97852450C>A , CM000671.2:g.97852450C>A | GRCh38 |
| NC_000009.11:g.100614732C>A , CM000671.1:g.100614732C>A | GRCh37 |
| NC_000009.10:g.99654553C>A | NCBI36 |
| NG_011979.1:g.4196C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+426G>T | ||
| XR_930159.1:n.218+426G>T | ||
| XR_930160.1:n.218+426G>T | ||
| XR_930161.1:n.218+426G>T | ||
| NR_147055.1:n.165+466G>T |