Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076244C>T , CM000679.2:g.8076244C>T | GRCh38 |
| NC_000017.10:g.7979562C>T , CM000679.1:g.7979562C>T | GRCh37 |
| NC_000017.9:g.7920287C>T | NCBI36 |
| NG_007099.1:g.16460G>A | |
| NG_007099.2:g.16473G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1463G>A MANE Select | NP_001130.1:p.Arg488His |
| ENST00000647874.1:c.1463G>A MANE Select | ENSP00000497784.1:p.Arg488His |
| NM_001139.2:c.1463G>A | NP_001130.1:p.Arg488His |
| ENST00000319144.4:c.1463G>A | ENSP00000315167.4:p.Arg488His |
| ENST00000577351.5:n.410G>A | |
| ENST00000583276.5:n.847G>A | |
| ENST00000649809.1:c.527G>A | ENSP00000496845.1:p.Arg176His |