Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42360841G>A , CM000681.2:g.42360841G>A | GRCh38 |
| NC_000019.9:g.42864993G>A , CM000681.1:g.42864993G>A | GRCh37 |
| NC_000019.8:g.47556833G>A | NCBI36 |
| NG_033030.1:g.40233G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.5555G>A MANE Select | NP_001258867.1:p.Arg1852His |
| ENST00000251268.11:c.5555G>A MANE Select | ENSP00000251268.5:p.Arg1852His |
| NM_001271938.1:c.5555G>A | NP_001258867.1:p.Arg1852His |
| NM_001410.2:c.5354G>A | NP_001401.2:p.Arg1785His |
| NM_001410.3:c.5354G>A | NP_001401.2:p.Arg1785His |
| ENST00000251268.10:c.5555G>A | ENSP00000251268.5:p.Arg1852His |
| ENST00000334370.8:c.5354G>A | ENSP00000334219.4:p.Arg1785His |
| ENST00000378073.5:c.-1531G>A | ENSP00000367313.4:n.-1531G>A |