Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59843067A>T , CM000673.2:g.59843067A>T | GRCh38 |
| NC_000011.9:g.59610540A>T , CM000673.1:g.59610540A>T | GRCh37 |
| NC_000011.8:g.59367116A>T | NCBI36 |
| NG_008120.1:g.7435T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.331T>A MANE Select | NP_005133.2:p.Ser111Thr |
| ENST00000257248.3:c.331T>A MANE Select | ENSP00000257248.2:p.Ser111Thr |
| NM_005142.2:c.331T>A | NP_005133.2:p.Ser111Thr |
| ENST00000257248.2:c.331T>A | ENSP00000257248.2:p.Ser111Thr |
| ENST00000525058.5:c.*298T>A | ENSP00000433196.1:n.*298T>A |
| ENST00000532070.1:n.377T>A | |
| XM_011544939.1:c.331T>A | XP_011543241.1:p.Ser111Thr |
| XM_011544939.3:c.331T>A | XP_011543241.1:p.Ser111Thr |