Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74524723C>T , CM000685.2:g.74524723C>T | GRCh38 |
| NC_000023.10:g.73744558C>T , CM000685.1:g.73744558C>T | GRCh37 |
| NC_000023.9:g.73661283C>T | NCBI36 |
| NG_011641.1:g.108474C>T | |
| NG_011641.2:g.108474C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.940C>T MANE Select | NP_006508.2:p.Arg314Ter |
| ENST00000587091.6:c.940C>T MANE Select | ENSP00000465734.1:p.Arg314Ter |
| NM_006517.4:c.940C>T | NP_006508.2:p.Arg314Ter |
| ENST00000587091.5:c.940C>T | ENSP00000465734.1:p.Arg314Ter |
| ENST00000590447.1:c.380C>T | |
| ENST00000636771.1:c.849C>T | |
| XM_005262294.1:c.940C>T | XP_005262351.1:p.Arg314Ter |
| XM_011531015.1:c.940C>T | XP_011529317.1:p.Arg314Ter |