Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63482552A= , CM000679.2:g.63482552A= | GRCh38 |
| NC_000017.10:g.61559913A= , CM000679.1:g.61559913A= | GRCh37 |
| NC_000017.9:g.58913645A= | NCBI36 |
| NG_011648.1:g.10480A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1205A= MANE Select | ENSP00000290866.4:p.Lys402= | |
| ENST00000290866.9:c.1205A= | ENSP00000290866.4:p.Lys402= | |
| ENST00000428043.5:c.1205A= | ENSP00000397593.2:p.Lys402= | |
| ENST00000582678.5:c.*604A= | ENSP00000462995.1:n.*604A= | |
| ENST00000584529.5:n.1239A= | ||
| NM_000789.3:c.1205A= | NP_000780.1:p.Lys402= | |
| XM_005257110.1:c.656A= | XP_005257167.1:p.Lys219= | |
| NM_000789.4:c.1205A= MANE Select | NP_000780.1:p.Lys402= | |
| NM_001382700.1:c.638A= | NP_001369629.1:p.Lys213= | |
| NM_001382701.1:c.353A= | NP_001369630.1:p.Lys118= |