Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184082G>A , CM000667.2:g.67184082G>A | GRCh38 |
| NC_000005.9:g.66479910G>A , CM000667.1:g.66479910G>A | GRCh37 |
| NC_000005.8:g.66515666G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.761C>T MANE Select | ENSP00000256447.4:p.Thr254Ile | |
| NM_005582.2:c.761C>T | NP_005573.2:p.Thr254Ile | |
| XM_005248504.3:c.722C>T | XP_005248561.1:p.Thr241Ile | |
| XM_005248504.4:c.722C>T | XP_005248561.1:p.Thr241Ile | |
| NM_005582.3:c.761C>T MANE Select | NP_005573.2:p.Thr254Ile |