Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27536399C>A , CM000671.2:g.27536399C>A | GRCh38 |
| NC_000009.11:g.27536397C>A , CM000671.1:g.27536397C>A | GRCh37 |
| NC_000009.10:g.27526397C>A | NCBI36 |
| NG_031977.2:g.42468G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000673600.1:c.*268-113G>T | ENSP00000500650.1:n.*268-113G>T |
| XR_001746639.2:n.7234-113G>T | |
| XR_002956873.1:n.1099C>A |