Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734256T>A , CM000679.2:g.4734256T>A | GRCh38 |
| NC_000017.10:g.4637551T>A , CM000679.1:g.4637551T>A | GRCh37 |
| NC_000017.9:g.4584300T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*247A>T MANE Select | ENSP00000293778.7:n.*247A>T | |
| ENST00000293778.10:c.*247A>T | ENSP00000293778.6:n.*247A>T | |
| ENST00000576153.5:n.803A>T | ||
| NM_022059.3:c.*247A>T | NP_071342.2:n.*247A>T | |
| NM_022059.4:c.*247A>T | NP_071342.2:n.*247A>T | |
| NM_001386809.1:c.*247A>T MANE Select | NP_001373738.1:n.*247A>T |