Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32049994C>T , CM000684.2:g.32049994C>T | GRCh38 |
| NC_000022.10:g.32445981C>T , CM000684.1:g.32445981C>T | GRCh37 |
| NC_000022.9:g.30775981C>T | NCBI36 |
| NG_017045.1:g.11963C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.187C>T MANE Select | NP_000334.1:p.Arg63Ter |
| ENST00000266088.9:c.187C>T MANE Select | ENSP00000266088.4:p.Arg63Ter |
| NM_000343.3:c.187C>T | NP_000334.1:p.Arg63Ter |
| ENST00000266088.8:c.187C>T | ENSP00000266088.4:p.Arg63Ter |
| XM_011530331.1:c.187C>T | XP_011528633.1:p.Arg63Ter |