Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965511C>G , CM000663.2:g.11965511C>G | GRCh38 |
| NC_000001.10:g.12025568C>G , CM000663.1:g.12025568C>G | GRCh37 |
| NC_000001.9:g.11948155C>G | NCBI36 |
| NG_008159.1:g.35823C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1502C>G MANE Select | ENSP00000196061.4:p.Thr501Ser | |
| ENST00000196061.4:c.1502C>G | ENSP00000196061.4:p.Thr501Ser | |
| ENST00000470133.1:n.116C>G | ||
| ENST00000491536.5:n.130C>G | ||
| NM_000302.3:c.1502C>G | NP_000293.2:p.Thr501Ser | |
| NM_001316320.1:c.1643C>G | NP_001303249.1:p.Thr548Ser | |
| XM_011541594.1:c.1583C>G | XP_011539896.1:p.Thr528Ser | |
| XM_024447707.1:c.836C>G | XP_024303475.1:p.Thr279Ser | |
| NM_000302.4:c.1502C>G MANE Select | NP_000293.2:p.Thr501Ser | |
| NM_001316320.2:c.1643C>G | NP_001303249.1:p.Thr548Ser |