Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107945198G>A , CM000666.2:g.107945198G>A | GRCh38 |
| NC_000004.11:g.108866354G>A , CM000666.1:g.108866354G>A | GRCh37 |
| NC_000004.10:g.109085803G>A | NCBI36 |
| NG_007961.1:g.18638G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.719G>A MANE Select | NP_898898.1:p.Arg240His |
| ENST00000332884.11:c.719G>A MANE Select | ENSP00000333212.6:p.Arg240His |
| NM_183075.2:c.719G>A | NP_898898.1:p.Arg240His |
| ENST00000332884.10:c.719G>A | ENSP00000333212.6:p.Arg240His |
| ENST00000508453.1:c.92G>A | ENSP00000423667.1:p.Arg31His |
| XM_005262717.2:c.773G>A | XP_005262774.1:p.Arg258His |
| XM_005262720.2:c.491-2178G>A | XP_005262777.1:n.491-2178G>A |
| XR_001741783.1:n.156-34649C>T | |
| XR_001741784.1:n.530+33522C>T |