Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94487756C>T , CM000663.2:g.94487756C>T | GRCh38 |
| NC_000001.10:g.94953312C>T , CM000663.1:g.94953312C>T | GRCh37 |
| NC_000001.9:g.94725900C>T | NCBI36 |
| NG_008865.1:g.74380C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002858.4:c.1030C>T MANE Select | NP_002849.1:p.Arg344Ter |
| ENST00000370214.9:c.1030C>T MANE Select | ENSP00000359233.4:p.Arg344Ter |
| NM_002858.3:c.1030C>T | NP_002849.1:p.Arg344Ter |
| ENST00000370214.8:c.1030C>T | ENSP00000359233.4:p.Arg344Ter |
| ENST00000484213.1:n.1880C>T | |
| ENST00000493416.5:n.588C>T | |
| ENST00000647998.2:c.1030C>T | ENSP00000497921.2:p.Arg344Ter |
| XM_005271089.2:c.937C>T | XP_005271146.1:p.Arg313Ter |
| XM_006710802.2:c.1102C>T | XP_006710865.2:p.Arg368Ter |
| XM_011541877.1:c.94C>T | XP_011540179.1:p.Arg32Ter |