Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94055161T>A , CM000663.2:g.94055161T>A | GRCh38 |
| NC_000001.10:g.94520717T>A , CM000663.1:g.94520717T>A | GRCh37 |
| NC_000001.9:g.94293305T>A | NCBI36 |
| NG_009073.1:g.70989A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2537A>T MANE Select | ENSP00000359245.3:p.Asp846Val | |
| ENST00000649773.1:c.2315A>T | ENSP00000496882.1:p.Asp772Val | |
| ENST00000370225.3:c.2537A>T | ENSP00000359245.3:p.Asp846Val | |
| ENST00000536513.5:c.-65+8013A>T | ENSP00000439707.2:n.-65+8013A>T | |
| NM_000350.2:c.2537A>T | NP_000341.2:p.Asp846Val | |
| NM_000350.3:c.2537A>T MANE Select | NP_000341.2:p.Asp846Val |