Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128333566G>A , CM000671.2:g.128333566G>A | GRCh38 |
| NC_000009.11:g.131095845G>A , CM000671.1:g.131095845G>A | GRCh37 |
| NC_000009.10:g.130135666G>A | NCBI36 |
| NG_042101.1:g.16059G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016035.5:c.719G>A MANE Select | NP_057119.3:p.Arg240His |
| ENST00000300452.8:c.719G>A MANE Select | ENSP00000300452.3:p.Arg240His |
| NM_001305942.1:c.*95G>A | NP_001292871.1:n.*95G>A |
| NM_001305942.2:c.*95G>A | NP_001292871.2:n.*95G>A |
| NM_016035.3:c.719G>A | NP_057119.2:p.Arg240His |
| NM_016035.4:c.719G>A | NP_057119.2:p.Arg240His |
| ENST00000300452.7:c.719G>A | ENSP00000300452.3:p.Arg240His |
| ENST00000461102.1:n.2625G>A | |
| XR_001746316.2:n.972G>A | |
| XR_929805.1:n.935G>A | |
| XR_929805.3:n.935G>A |