Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212895006C>T , CM000663.2:g.212895006C>T | GRCh38 |
| NC_000001.10:g.213068348C>T , CM000663.1:g.213068348C>T | GRCh37 |
| NC_000001.9:g.211134971C>T | NCBI36 |
| NG_028131.1:g.41752C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014053.4:c.1546C>T MANE Select | NP_054772.1:p.Arg516Ter |
| ENST00000366971.9:c.1546C>T MANE Select | ENSP00000355938.4:p.Arg516Ter |
| NM_014053.3:c.1546C>T | NP_054772.1:p.Arg516Ter |
| ENST00000366971.8:c.1546C>T | ENSP00000355938.4:p.Arg516Ter |
| ENST00000419102.1:c.942C>T | |
| ENST00000483790.1:n.373C>T | |
| XM_011509446.1:c.1435C>T | XP_011507748.1:p.Arg479Ter |
| XM_011509446.3:c.1435C>T | XP_011507748.1:p.Arg479Ter |
| XR_247024.1:n.1720C>T | |
| XR_247024.3:n.1720C>T |