Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325536C>A , CM000672.2:g.47325536C>A | GRCh38 |
| NC_000010.10:g.48413826G>T , CM000672.1:g.48413826G>T | GRCh37 |
| NC_000010.9:g.48033832G>T | NCBI36 |
| NG_033916.1:g.8047C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016204.4:c.1042C>A MANE Select | NP_057288.1:p.Pro348Thr |
| ENST00000581492.3:c.1042C>A MANE Select | ENSP00000463051.1:p.Pro348Thr |
| NM_016204.2:c.1042C>A | NP_057288.1:p.Pro348Thr |
| NM_016204.3:c.1042C>A | NP_057288.1:p.Pro348Thr |
| ENST00000581492.2:c.1042C>A | ENSP00000463051.1:p.Pro348Thr |
| XM_006717761.2:c.1042C>A | XP_006717824.1:p.Pro348Thr |