Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319358T>A , CM000673.2:g.6319358T>A | GRCh38 |
| NC_000011.9:g.6340588T>A , CM000673.1:g.6340588T>A | GRCh37 |
| NC_000011.8:g.6297164T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.591A>T MANE Select | ENSP00000307292.3:p.Lys197Asn | |
| ENST00000303927.3:c.591A>T | ENSP00000307292.3:p.Lys197Asn | |
| ENST00000524852.1:n.377A>T | ||
| ENST00000530979.1:c.687A>T | ENSP00000432047.1:p.Lys229Asn | |
| ENST00000532354.1:n.613A>T | ||
| NM_145040.2:c.591A>T | NP_659477.2:p.Lys197Asn | |
| XR_930997.1:n.720+1138T>A | ||
| XR_242848.4:n.218T>A | ||
| NM_145040.3:c.591A>T MANE Select | NP_659477.2:p.Lys197Asn |