Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813666A>C , CM000671.2:g.129813666A>C | GRCh38 |
| NC_000009.11:g.132575945A>C , CM000671.1:g.132575945A>C | GRCh37 |
| NC_000009.10:g.131615766A>C | NCBI36 |
| NG_008049.1:g.15497T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*306T>G MANE Select | ENSP00000345719.4:n.*306T>G | |
| ENST00000651202.1:c.*573T>G | ENSP00000498222.1:n.*573T>G | |
| ENST00000351698.4:c.*306T>G | ENSP00000345719.4:n.*306T>G | |
| ENST00000474192.1:n.889T>G | ||
| NM_000113.2:c.*306T>G | NP_000104.1:n.*306T>G | |
| XR_929731.3:n.1500T>G | ||
| NM_000113.3:c.*306T>G MANE Select | NP_000104.1:n.*306T>G |