Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184083T>C , CM000667.2:g.67184083T>C | GRCh38 |
| NC_000005.9:g.66479911T>C , CM000667.1:g.66479911T>C | GRCh37 |
| NC_000005.8:g.66515667T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.760A>G MANE Select | ENSP00000256447.4:p.Thr254Ala | |
| NM_005582.2:c.760A>G | NP_005573.2:p.Thr254Ala | |
| XM_005248504.3:c.721A>G | XP_005248561.1:p.Thr241Ala | |
| XM_005248504.4:c.721A>G | XP_005248561.1:p.Thr241Ala | |
| NM_005582.3:c.760A>G MANE Select | NP_005573.2:p.Thr254Ala |