Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544218T>A , CM000679.2:g.42544218T>A | GRCh38 |
| NC_000017.10:g.40696236T>A , CM000679.1:g.40696236T>A | GRCh37 |
| NC_000017.9:g.37949762T>A | NCBI36 |
| NG_011552.1:g.13286T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2212T>A MANE Select | ENSP00000225927.1:p.Trp738Arg | |
| ENST00000225927.6:c.2212T>A | ENSP00000225927.1:p.Trp738Arg | |
| NM_000263.3:c.2212T>A | NP_000254.2:p.Trp738Arg | |
| XM_006721920.2:c.1381T>A | XP_006721983.1:p.Trp461Arg | |
| XM_011524840.1:c.1213T>A | XP_011523142.1:p.Trp405Arg | |
| XM_017024687.1:c.1381T>A | XP_016880176.1:p.Trp461Arg | |
| XM_024450771.1:c.2269T>A | XP_024306539.1:p.Trp757Arg | |
| XM_024450772.1:c.1213T>A | XP_024306540.1:p.Trp405Arg | |
| NM_000263.4:c.2212T>A MANE Select | NP_000254.2:p.Trp738Arg |