Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218890349C>T , CM000664.2:g.218890349C>T | GRCh38 |
| NC_000002.11:g.219755071C>T , CM000664.1:g.219755071C>T | GRCh37 |
| NC_000002.10:g.219463315C>T | NCBI36 |
| NG_012179.1:g.14817C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025216.3:c.742C>T MANE Select | NP_079492.2:p.Arg248Ter |
| ENST00000258411.8:c.742C>T MANE Select | ENSP00000258411.3:p.Arg248Ter |
| NM_025216.2:c.742C>T | NP_079492.2:p.Arg248Ter |
| ENST00000258411.7:c.742C>T | ENSP00000258411.3:p.Arg248Ter |
| ENST00000458582.1:c.264-2425C>T | |
| XM_011511928.1:c.691C>T | XP_011510230.1:p.Arg231Ter |
| XM_011511929.1:c.646C>T | XP_011510231.1:p.Arg216Ter |
| XM_011511929.2:c.646C>T | XP_011510231.1:p.Arg216Ter |
| XM_011511930.1:c.377-2425C>T | XP_011510232.1:n.377-2425C>T |