Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445702C>A , CM000663.2:g.15445702C>A | GRCh38 |
| NC_000001.10:g.15772197C>A , CM000663.1:g.15772197C>A | GRCh37 |
| NC_000001.9:g.15644784C>A | NCBI36 |
| NG_009253.1:g.12260C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.745C>A MANE Select | ENSP00000365116.4:p.Pro249Thr | |
| ENST00000375943.6:c.*199C>A | ENSP00000365110.2:n.*199C>A | |
| ENST00000375949.4:c.745C>A | ENSP00000365116.4:p.Pro249Thr | |
| ENST00000483406.1:n.509C>A | ||
| NM_007272.2:c.745C>A | NP_009203.2:p.Pro249Thr | |
| XM_011540550.1:c.599C>A | XP_011538852.1:p.Ala200Asp | |
| NM_007272.3:c.745C>A MANE Select | NP_009203.2:p.Pro249Thr |