Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51350385C= , CM000681.2:g.51350385C= | GRCh38 |
| NC_000019.9:g.51853639C= , CM000681.1:g.51853639C= | GRCh37 |
| NC_000019.8:g.56545451C= | NCBI36 |
| NG_007115.1:g.21034G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.382G= MANE Select | NP_001976.1:p.Asp128= |
| ENST00000309244.9:c.382G= MANE Select | ENSP00000311930.3:p.Asp128= |
| NM_001014763.1:c.655G= | NP_001014763.1:p.Asp219= |
| NM_001985.2:c.382G= | NP_001976.1:p.Asp128= |
| ENST00000309244.8:c.382G= | ENSP00000311930.3:p.Asp128= |
| ENST00000354232.8:c.655G= | ENSP00000346173.3:p.Asp219= |
| ENST00000593992.1:n.405G= | |
| ENST00000596253.1:c.223G= | ENSP00000469628.1:p.Asp75= |
| ENST00000600067.1:c.*308G= | ENSP00000469452.1:n.*308G= |
| XM_024451418.1:c.271G= | XP_024307186.1:p.Asp91= |