Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143316339C>T , CM000669.2:g.143316339C>T | GRCh38 |
| NC_000007.13:g.143013432C>T , CM000669.1:g.143013432C>T | GRCh37 |
| NC_000007.12:g.142723554C>T | NCBI36 |
| NG_009815.1:g.5214C>T | |
| NG_009815.2:g.5214C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000083.3:c.127C>T MANE Select | NP_000074.3:p.Gln43Ter |
| ENST00000343257.7:c.127C>T MANE Select | ENSP00000339867.2:p.Gln43Ter |
| NM_000083.2:c.127C>T | NP_000074.2:p.Gln43Ter |
| NR_046453.1:n.214C>T | |
| NR_046453.2:n.229C>T | |
| ENST00000343257.6:c.127C>T | ENSP00000339867.2:p.Gln43Ter |
| ENST00000650516.1:c.127C>T | ENSP00000498052.1:p.Gln43Ter |
| ENST00000650516.2:c.127C>T | ENSP00000498052.2:p.Gln43Ter |
| XM_011515781.1:c.127C>T | XP_011514083.1:p.Gln43Ter |