Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417027A>C , CM000683.2:g.43417027A>C | GRCh38 |
| NG_052009.1:g.15106T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2067T>G MANE Select | ENSP00000270162.6:p.Cys689Trp | |
| ENST00000270162.6:c.2067T>G | ENSP00000270162.6:p.Cys689Trp | |
| NM_173354.3:c.2067T>G | NP_775490.2:p.Cys689Trp | |
| XM_011529474.1:c.1920T>G | XP_011527776.1:p.Cys640Trp | |
| NM_173354.4:c.2067T>G | NP_775490.2:p.Cys689Trp | |
| XM_011529474.2:c.1920T>G | XP_011527776.1:p.Cys640Trp | |
| NM_173354.5:c.2067T>G MANE Select | NP_775490.2:p.Cys689Trp |