Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219979495G>A , CM000663.2:g.219979495G>A | GRCh38 |
| NC_000001.10:g.220152837G>A , CM000663.1:g.220152837G>A | GRCh37 |
| NC_000001.9:g.218219460G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004446.3:c.3832C>T MANE Select | NP_004437.2:p.Arg1278Ter |
| ENST00000366923.8:c.3832C>T MANE Select | ENSP00000355890.3:p.Arg1278Ter |
| NM_004446.2:c.3832C>T | NP_004437.2:p.Arg1278Ter |
| ENST00000366923.7:c.3832C>T | ENSP00000355890.3:p.Arg1278Ter |
| XM_017000614.2:c.2254C>T | XP_016856103.1:p.Arg752Ter |