Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293258T>A , CM000684.2:g.45293258T>A | GRCh38 |
| NC_000022.10:g.45689139T>A , CM000684.1:g.45689139T>A | GRCh37 |
| NC_000022.9:g.44067803T>A | NCBI36 |
| NG_016203.1:g.13272T>A | |
| NG_016203.2:g.13272T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.649T>A MANE Select | ENSP00000216211.4:p.Ser217Thr | |
| ENST00000216211.8:c.649T>A | ENSP00000216211.4:p.Ser217Thr | |
| ENST00000396082.2:c.286T>A | ENSP00000379391.2:p.Ser96Thr | |
| NM_001167574.1:c.286T>A | NP_001161046.1:p.Ser96Thr | |
| NM_006953.3:c.649T>A | NP_008884.1:p.Ser217Thr | |
| XM_011530364.1:c.655T>A | XP_011528666.1:p.Ser219Thr | |
| XM_011530365.1:c.292T>A | XP_011528667.1:p.Ser98Thr | |
| NM_006953.4:c.649T>A MANE Select | NP_008884.1:p.Ser217Thr | |
| NM_001167574.2:c.286T>A | NP_001161046.1:p.Ser96Thr |