Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930109G>A , CM000685.2:g.119930109G>A | GRCh38 |
| NC_000023.10:g.119064072G>A , CM000685.1:g.119064072G>A | GRCh37 |
| NC_000023.9:g.118948100G>A | NCBI36 |
| NG_021260.1:g.18664C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.980C>T MANE Select | ENSP00000360464.3:p.Ala327Val | |
| ENST00000652253.1:c.976C>T | ||
| ENST00000371410.4:c.980C>T | ENSP00000360464.3:p.Ala327Val | |
| ENST00000477789.5:n.1908C>T | ||
| NM_024528.3:c.980C>T | NP_078804.2:p.Ala327Val | |
| XM_017029842.1:c.683C>T | XP_016885331.1:p.Ala228Val | |
| NM_024528.4:c.980C>T MANE Select | NP_078804.2:p.Ala327Val |