Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132474C>G , CM000669.2:g.147132474C>G | GRCh38 |
| NC_000007.13:g.146829566C>G , CM000669.1:g.146829566C>G | GRCh37 |
| NC_000007.12:g.146460499C>G | NCBI36 |
| NG_007092.2:g.1021114C>G | |
| NG_007092.3:g.1021474C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1313C>G MANE Select | ENSP00000354778.3:p.Thr438Arg | |
| ENST00000636561.1:n.1216C>G | ||
| ENST00000636870.1:n.1175C>G | ||
| ENST00000637150.1:n.1242C>G | ||
| ENST00000637694.1:n.1216C>G | ||
| ENST00000637825.1:n.796C>G | ||
| ENST00000638117.1:n.1216C>G | ||
| ENST00000361727.7:c.1313C>G | ENSP00000354778.3:p.Thr438Arg | |
| NM_014141.5:c.1313C>G | NP_054860.1:p.Thr438Arg | |
| XM_017011950.2:c.1313C>G | XP_016867439.1:p.Thr438Arg | |
| NM_014141.6:c.1313C>G MANE Select | NP_054860.1:p.Thr438Arg |