Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293308C>A , CM000684.2:g.45293308C>A | GRCh38 |
| NC_000022.10:g.45689189C>A , CM000684.1:g.45689189C>A | GRCh37 |
| NC_000022.9:g.44067853C>A | NCBI36 |
| NG_016203.1:g.13322C>A | |
| NG_016203.2:g.13322C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.699C>A MANE Select | ENSP00000216211.4:p.Ser233Arg | |
| ENST00000216211.8:c.699C>A | ENSP00000216211.4:p.Ser233Arg | |
| ENST00000396082.2:c.336C>A | ENSP00000379391.2:p.Ser112Arg | |
| NM_001167574.1:c.336C>A | NP_001161046.1:p.Ser112Arg | |
| NM_006953.3:c.699C>A | NP_008884.1:p.Ser233Arg | |
| XM_011530364.1:c.705C>A | XP_011528666.1:p.Ser235Arg | |
| XM_011530365.1:c.342C>A | XP_011528667.1:p.Ser114Arg | |
| NM_006953.4:c.699C>A MANE Select | NP_008884.1:p.Ser233Arg | |
| NM_001167574.2:c.336C>A | NP_001161046.1:p.Ser112Arg |