Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244177G>T , CM000665.2:g.101244177G>T | GRCh38 |
| NC_000003.11:g.100963021G>T , CM000665.1:g.100963021G>T | GRCh37 |
| NC_000003.10:g.102445711G>T | NCBI36 |
| NG_028284.1:g.81399C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.2154C>A MANE Select | NP_057331.2:p.Thr718= |
| ENST00000193391.8:c.2154C>A MANE Select | ENSP00000193391.6:p.Thr718= |
| NM_016247.3:c.2154C>A | NP_057331.2:p.Thr718= |
| ENST00000193391.7:c.2154C>A | ENSP00000193391.6:p.Thr718= |
| XM_011512871.1:c.1860C>A | XP_011511173.1:p.Thr620= |
| XM_011512872.1:c.1743C>A | XP_011511174.1:p.Thr581= |