Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64746796A>T , CM000673.2:g.64746796A>T | GRCh38 |
| NC_000011.9:g.64514268A>T , CM000673.1:g.64514268A>T | GRCh37 |
| NC_000011.8:g.64270844A>T | NCBI36 |
| NG_007574.1:g.3661T>A , LRG_100:g.3661T>A | |
| NG_013018.1:g.18920T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.2392T>A MANE Select | NP_005600.1:p.Trp798Arg |
| ENST00000164139.4:c.2392T>A MANE Select | ENSP00000164139.3:p.Trp798Arg |
| NM_001164716.1:c.2128T>A | NP_001158188.1:p.Trp710Arg |
| NM_005609.2:c.2392T>A | NP_005600.1:p.Trp798Arg |
| NM_005609.3:c.2392T>A | NP_005600.1:p.Trp798Arg |
| ENST00000164139.3:c.2392T>A | ENSP00000164139.3:p.Trp798Arg |
| ENST00000377432.7:c.2128T>A | ENSP00000366650.3:p.Trp710Arg |
| ENST00000483742.1:n.1745T>A |