Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22033063C>T , CM000685.2:g.22033063C>T | GRCh38 |
| NC_000023.10:g.22051181C>T , CM000685.1:g.22051181C>T | GRCh37 |
| NC_000023.9:g.21961102C>T | NCBI36 |
| NG_007563.2:g.5261C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000444.6:c.58C>T MANE Select | NP_000435.3:p.Arg20Ter |
| ENST00000379374.5:c.58C>T MANE Select | ENSP00000368682.4:p.Arg20Ter |
| NM_000444.5:c.58C>T | NP_000435.3:p.Arg20Ter |
| NM_001282754.1:c.58C>T | NP_001269683.1:p.Arg20Ter |
| NM_001282754.2:c.58C>T | NP_001269683.1:p.Arg20Ter |
| ENST00000379374.4:c.58C>T | ENSP00000368682.4:p.Arg20Ter |
| ENST00000475778.2:n.484C>T | |
| ENST00000683214.1:n.484C>T | |
| ENST00000684143.1:c.58C>T | ENSP00000508264.1:p.Arg20Ter |
| XM_011545535.1:c.58C>T | XP_011543837.1:p.Arg20Ter |
| XR_001755695.1:n.737C>T |