Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872996T>A , CM000673.2:g.124872996T>A | GRCh38 |
| NC_000011.9:g.124742892T>A , CM000673.1:g.124742892T>A | GRCh37 |
| NC_000011.8:g.124248102T>A | NCBI36 |
| NG_016214.1:g.12588T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1443T>A MANE Select | ENSP00000380903.1:p.Ser481Arg | |
| ENST00000397801.5:c.1443T>A | ENSP00000380903.1:p.Ser481Arg | |
| ENST00000538940.5:c.1377T>A | ENSP00000441797.1:p.Ser459Arg | |
| NM_022370.3:c.1443T>A | NP_071765.2:p.Ser481Arg | |
| XM_011542953.1:c.2415T>A | XP_011541255.1:p.Ser805Arg | |
| XM_017018122.1:c.1377T>A | XP_016873611.1:p.Ser459Arg | |
| NM_022370.4:c.1443T>A MANE Select | NP_071765.2:p.Ser481Arg |