Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675832C>A , CM000685.2:g.38675832C>A | GRCh38 |
| NC_000023.10:g.38535086C>A , CM000685.1:g.38535086C>A | GRCh37 |
| NC_000023.9:g.38420030C>A | NCBI36 |
| NG_009160.1:g.119356C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.569C>A MANE Select | ENSP00000367743.2:p.Thr190Asn | |
| ENST00000286824.6:c.620C>A | ENSP00000286824.6:p.Thr207Asn | |
| ENST00000378482.6:c.569C>A | ENSP00000367743.2:p.Thr190Asn | |
| ENST00000419600.3:n.513C>A | ||
| ENST00000465127.1:c.659C>A | ENSP00000417050.1:p.Thr220Asn | |
| ENST00000471410.5:c.*595C>A | ENSP00000419290.1:n.*595C>A | |
| ENST00000475216.5:c.*562C>A | ENSP00000418586.1:n.*562C>A | |
| NM_004615.3:c.569C>A | NP_004606.2:p.Thr190Asn | |
| NM_004615.4:c.569C>A MANE Select | NP_004606.2:p.Thr190Asn |