Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43426136C>A , CM000683.2:g.43426136C>A | GRCh38 |
| NG_052009.1:g.5997G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173354.5:c.43G>T MANE Select | NP_775490.2:p.Gly15Cys |
| ENST00000270162.8:c.43G>T MANE Select | ENSP00000270162.6:p.Gly15Cys |
| NM_173354.3:c.43G>T | NP_775490.2:p.Gly15Cys |
| NM_173354.4:c.43G>T | NP_775490.2:p.Gly15Cys |
| ENST00000270162.6:c.43G>T | ENSP00000270162.6:p.Gly15Cys |
| ENST00000644276.1:n.140G>T | |
| ENST00000644750.1:c.43G>T | ENSP00000495479.1:p.Gly15Cys |
| XM_011529474.1:c.43G>T | XP_011527776.1:p.Gly15Cys |
| XM_011529474.2:c.43G>T | XP_011527776.1:p.Gly15Cys |