Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7509094C>T , CM000679.2:g.7509094C>T | GRCh38 |
| NC_000017.10:g.7412413C>T , CM000679.1:g.7412413C>T | GRCh37 |
| NC_000017.9:g.7353137C>T | NCBI36 |
| NG_027747.1:g.29716C>T | |
| NG_027747.2:g.29716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.4015C>T | ||
| ENST00000674977.2:c.3616C>T | ENSP00000502190.2:p.Arg1206Ter | |
| ENST00000573603.1:n.156C>T | ||
| ENST00000617998.4:c.3616C>T | ENSP00000480158.1:p.Arg1206Ter | |
| ENST00000621442.4:c.3616C>T | ENSP00000483957.1:p.Arg1206Ter | |
| NM_000937.4:c.3616C>T | NP_000928.1:p.Arg1206Ter | |
| NM_000937.5:c.3616C>T MANE Select | NP_000928.1:p.Arg1206Ter |