Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4817033A>C , CM000681.2:g.4817033A>C | GRCh38 |
| NC_000019.9:g.4817045A>C , CM000681.1:g.4817045A>C | GRCh37 |
| NC_000019.8:g.4768045A>C | NCBI36 |
| NG_031998.1:g.19710T>G , LRG_358:g.19710T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1345T>G MANE Select | ENSP00000248244.4:p.Ser449Ala | |
| ENST00000248244.5:c.1345T>G | ENSP00000248244.4:p.Ser449Ala | |
| ENST00000621756.1:c.928T>G | ENSP00000479467.1:p.Ser310Ala | |
| NM_182919.3:c.1345T>G , LRG_358t1:c.1345T>G | NP_891549.1:p.Ser449Ala | |
| NM_001385678.1:c.1303T>G | NP_001372607.1:p.Ser435Ala | |
| NM_001385679.1:c.1210T>G | NP_001372608.1:p.Ser404Ala | |
| NM_001385680.1:c.703T>G | NP_001372609.1:p.Ser235Ala | |
| NM_182919.4:c.1345T>G MANE Select | NP_891549.1:p.Ser449Ala |