Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82026925C>T , CM000679.2:g.82026925C>T | GRCh38 |
| NC_000017.10:g.79984801C>T , CM000679.1:g.79984801C>T | GRCh37 |
| NC_000017.9:g.77578090C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144999.4:c.688C>T MANE Select | NP_659436.1:p.Arg230Trp |
| ENST00000306688.8:c.688C>T MANE Select | ENSP00000306760.3:p.Arg230Trp |
| NM_144999.3:c.688C>T | NP_659436.1:p.Arg230Trp |
| ENST00000306688.7:c.688C>T | ENSP00000306760.3:p.Arg230Trp |
| ENST00000583302.1:n.120C>T | |
| XR_933932.1:n.1082C>T | |
| XR_933932.2:n.1080C>T |