Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63483494C= , CM000679.2:g.63483494C= | GRCh38 |
| NC_000017.10:g.61560855C= , CM000679.1:g.61560855C= | GRCh37 |
| NC_000017.9:g.58914587C= | NCBI36 |
| NG_011648.1:g.11422C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000789.4:c.1522C= MANE Select | NP_000780.1:p.Arg508= |
| ENST00000290866.10:c.1522C= MANE Select | ENSP00000290866.4:p.Arg508= |
| NM_000789.3:c.1522C= | NP_000780.1:p.Arg508= |
| NM_001382700.1:c.955C= | NP_001369629.1:p.Arg319= |
| NM_001382701.1:c.670C= | NP_001369630.1:p.Arg224= |
| ENST00000290866.9:c.1522C= | ENSP00000290866.4:p.Arg508= |
| ENST00000428043.5:c.1522C= | ENSP00000397593.2:p.Arg508= |
| ENST00000582678.5:c.*921C= | ENSP00000462995.1:n.*921C= |
| ENST00000584529.5:n.1411C= | |
| XM_005257110.1:c.973C= | XP_005257167.1:p.Arg325= |