Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7500799A>T , CM000679.2:g.7500799A>T | GRCh38 |
| NC_000017.10:g.7404118A>T , CM000679.1:g.7404118A>T | GRCh37 |
| NC_000017.9:g.7344842A>T | NCBI36 |
| NG_027747.1:g.21421A>T | |
| NG_027747.2:g.21421A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.1832A>T MANE Select | NP_000928.1:p.Asp611Val |
| NM_000937.4:c.1832A>T | NP_000928.1:p.Asp611Val |
| ENST00000617998.4:c.1832A>T | ENSP00000480158.1:p.Asp611Val |
| ENST00000617998.6:n.2231A>T | |
| ENST00000621442.4:c.1832A>T | ENSP00000483957.1:p.Asp611Val |
| ENST00000674977.2:c.1832A>T | ENSP00000502190.2:p.Asp611Val |