Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126036209A= , CM000672.2:g.126036209A= | GRCh38 |
| NC_000010.10:g.127724778A= , CM000672.1:g.127724778A= | GRCh37 |
| NC_000010.9:g.127714768A= | NCBI36 |
| NG_029050.1:g.357350T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001288973.2:c.2466T= MANE Select | NP_001275902.1:p.Ala822= |
| ENST00000448723.2:c.2466T= MANE Select | ENSP00000391268.2:p.Ala822= |
| NM_001288973.1:c.2466T= | NP_001275902.1:p.Ala822= |
| NM_003474.5:c.2475T= | NP_003465.3:p.Ala825= |
| NM_003474.6:c.2475T= | NP_003465.3:p.Ala825= |
| ENST00000368679.8:c.2475T= | ENSP00000357668.4:p.Ala825= |
| XM_017016705.1:c.2007T= | XP_016872194.1:p.Ala669= |
| XM_017016706.1:c.1308T= | XP_016872195.1:p.Ala436= |
| XM_024448210.1:c.1137T= | XP_024303978.1:p.Ala379= |