Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94063158G>A , CM000663.2:g.94063158G>A | GRCh38 |
| NC_000001.10:g.94528714G>A , CM000663.1:g.94528714G>A | GRCh37 |
| NC_000001.9:g.94301302G>A | NCBI36 |
| NG_009073.1:g.62992C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.1714C>T MANE Select | NP_000341.2:p.Arg572Ter |
| ENST00000370225.4:c.1714C>T MANE Select | ENSP00000359245.3:p.Arg572Ter |
| NM_000350.2:c.1714C>T | NP_000341.2:p.Arg572Ter |
| ENST00000370225.3:c.1714C>T | ENSP00000359245.3:p.Arg572Ter |
| ENST00000536513.5:c.-65+16C>T | ENSP00000439707.2:n.-65+16C>T |
| ENST00000649773.1:c.1714C>T | ENSP00000496882.1:p.Arg572Ter |