Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8554039G>A , CM000685.2:g.8554039G>A | GRCh38 |
| NC_000023.10:g.8522080G>A , CM000685.1:g.8522080G>A | GRCh37 |
| NC_000023.9:g.8482080G>A | NCBI36 |
| NG_007088.1:g.183148C>T | |
| NG_007088.2:g.183148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.1267C>T MANE Select | ENSP00000262648.3:p.Arg423Ter | |
| ENST00000262648.7:c.1267C>T | ENSP00000262648.3:p.Arg423Ter | |
| ENST00000619786.1:c.1264C>T | ENSP00000478734.1:p.Arg422Ter | |
| NM_000216.2:c.1267C>T | NP_000207.2:p.Arg423Ter | |
| NM_000216.3:c.1267C>T | NP_000207.2:p.Arg423Ter | |
| NM_000216.4:c.1267C>T MANE Select | NP_000207.2:p.Arg423Ter |