Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813781C>A , CM000671.2:g.129813781C>A | GRCh38 |
| NC_000009.11:g.132576060C>A , CM000671.1:g.132576060C>A | GRCh37 |
| NC_000009.10:g.131615881C>A | NCBI36 |
| NG_008049.1:g.15382G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.*191G>T MANE Select | NP_000104.1:n.*191G>T |
| ENST00000351698.5:c.*191G>T MANE Select | ENSP00000345719.4:n.*191G>T |
| NM_000113.2:c.*191G>T | NP_000104.1:n.*191G>T |
| ENST00000351698.4:c.*191G>T | ENSP00000345719.4:n.*191G>T |
| ENST00000474192.1:n.774G>T | |
| ENST00000651202.1:c.*458G>T | ENSP00000498222.1:n.*458G>T |
| XR_929731.3:n.1385G>T |