Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785793C= , CM000681.2:g.18785793C= | GRCh38 |
| NC_000019.9:g.18896603C= , CM000681.1:g.18896603C= | GRCh37 |
| NC_000019.8:g.18757603C= | NCBI36 |
| NG_007070.1:g.10512G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1548G= MANE Select | ENSP00000222271.2:p.Lys516= | |
| ENST00000222271.6:c.1548G= | ENSP00000222271.2:p.Lys516= | |
| ENST00000425807.1:c.1389G= | ENSP00000403792.1:p.Lys463= | |
| ENST00000542601.6:c.1449G= | ENSP00000439156.2:p.Lys483= | |
| NM_000095.2:c.1548G= | NP_000086.2:p.Lys516= | |
| NM_000095.3:c.1548G= MANE Select | NP_000086.2:p.Lys516= |