Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94489789C>T , CM000663.2:g.94489789C>T | GRCh38 |
| NC_000001.10:g.94955345C>T , CM000663.1:g.94955345C>T | GRCh37 |
| NC_000001.9:g.94727933C>T | NCBI36 |
| NG_008865.1:g.76413C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002858.4:c.1222C>T MANE Select | NP_002849.1:p.Arg408Cys |
| ENST00000370214.9:c.1222C>T MANE Select | ENSP00000359233.4:p.Arg408Cys |
| NM_002858.3:c.1222C>T | NP_002849.1:p.Arg408Cys |
| ENST00000370214.8:c.1222C>T | ENSP00000359233.4:p.Arg408Cys |
| ENST00000484213.1:n.2072C>T | |
| ENST00000647998.2:c.1222C>T | ENSP00000497921.2:p.Arg408Cys |
| XM_005271089.2:c.1129C>T | XP_005271146.1:p.Arg377Cys |
| XM_006710802.2:c.1294C>T | XP_006710865.2:p.Arg432Cys |
| XM_011541877.1:c.286C>T | XP_011540179.1:p.Arg96Cys |