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