Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133658365A>T , CM000671.2:g.133658365A>T | GRCh38 |
| NC_000009.11:g.136523487A>T , CM000671.1:g.136523487A>T | GRCh37 |
| NC_000009.10:g.135513308A>T | NCBI36 |
| NG_008645.1:g.27003A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.1772A>T MANE Select | NP_000778.3:p.Glu591Val |
| ENST00000393056.8:c.1772A>T MANE Select | ENSP00000376776.2:p.Glu591Val |
| NM_000787.3:c.1772A>T | NP_000778.3:p.Glu591Val |
| ENST00000393056.6:c.1772A>T | ENSP00000376776.2:p.Glu591Val |