Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55057403C>T , CM000663.2:g.55057403C>T | GRCh38 |
| NC_000001.10:g.55523076C>T , CM000663.1:g.55523076C>T | GRCh37 |
| NC_000001.9:g.55295664C>T | NCBI36 |
| NG_009061.1:g.22857C>T , LRG_275:g.22857C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.1069C>T MANE Select | NP_777596.2:p.Arg357Cys |
| ENST00000302118.5:c.1069C>T MANE Select | ENSP00000303208.5:p.Arg357Cys |
| NM_174936.3:c.1069C>T , LRG_275t1:c.1069C>T | NP_777596.2:p.Arg357Cys |
| NR_110451.1:n.728C>T | |
| NR_110451.2:n.728C>T | |
| ENST00000490692.1:n.1818-25C>T | |
| ENST00000673903.1:c.694C>T | ENSP00000501257.1:p.Arg232Cys |
| ENST00000673913.2:c.1069C>T | ENSP00000501161.2:p.Arg357Cys |
| ENST00000710286.1:c.1426C>T | ENSP00000518176.1:p.Arg476Cys |
| XM_011541193.1:c.190C>T | XP_011539495.1:p.Arg64Cys |