Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734249G>A , CM000679.2:g.4734249G>A | GRCh38 |
| NC_000017.10:g.4637544G>A , CM000679.1:g.4637544G>A | GRCh37 |
| NC_000017.9:g.4584293G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*254C>T MANE Select | ENSP00000293778.7:n.*254C>T | |
| ENST00000293778.10:c.*254C>T | ENSP00000293778.6:n.*254C>T | |
| ENST00000576153.5:n.810C>T | ||
| NM_022059.3:c.*254C>T | NP_071342.2:n.*254C>T | |
| NM_022059.4:c.*254C>T | NP_071342.2:n.*254C>T | |
| NM_001386809.1:c.*254C>T MANE Select | NP_001373738.1:n.*254C>T |