Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63482495A= , CM000679.2:g.63482495A= | GRCh38 |
| NC_000017.10:g.61559856A= , CM000679.1:g.61559856A= | GRCh37 |
| NC_000017.9:g.58913588A= | NCBI36 |
| NG_011648.1:g.10423A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1148A= MANE Select | ENSP00000290866.4:p.Asp383= | |
| ENST00000290866.9:c.1148A= | ENSP00000290866.4:p.Asp383= | |
| ENST00000428043.5:c.1148A= | ENSP00000397593.2:p.Asp383= | |
| ENST00000582678.5:c.*547A= | ENSP00000462995.1:n.*547A= | |
| ENST00000584529.5:n.1182A= | ||
| NM_000789.3:c.1148A= | NP_000780.1:p.Asp383= | |
| XM_005257110.1:c.599A= | XP_005257167.1:p.Asp200= | |
| NM_000789.4:c.1148A= MANE Select | NP_000780.1:p.Asp383= | |
| NM_001382700.1:c.581A= | NP_001369629.1:p.Asp194= | |
| NM_001382701.1:c.296A= | NP_001369630.1:p.Asp99= |