Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133071121G>A , CM000671.2:g.133071121G>A | GRCh38 |
| NC_000009.11:g.135946508G>A , CM000671.1:g.135946508G>A | GRCh37 |
| NC_000009.10:g.134936329G>A | NCBI36 |
| NG_016394.1:g.14144G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.1619G>A MANE Select | NP_001798.3:p.Arg540His |
| ENST00000372080.8:c.1619G>A MANE Select | ENSP00000361151.6:p.Arg540His |
| NM_001807.4:c.1628G>A | NP_001798.2:p.Arg543His |
| NM_001807.5:c.1619G>A | NP_001798.3:p.Arg540His |
| ENST00000372080.6:c.1628G>A | ENSP00000361151.4:p.Arg543His |
| ENST00000621209.1:c.*619G>A | ENSP00000480238.1:n.*619G>A |