Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675854C>A , CM000685.2:g.38675854C>A | GRCh38 |
| NC_000023.10:g.38535108C>A , CM000685.1:g.38535108C>A | GRCh37 |
| NC_000023.9:g.38420052C>A | NCBI36 |
| NG_009160.1:g.119378C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.591C>A MANE Select | ENSP00000367743.2:p.Asn197Lys | |
| ENST00000286824.6:c.642C>A | ENSP00000286824.6:p.Asn214Lys | |
| ENST00000378482.6:c.591C>A | ENSP00000367743.2:p.Asn197Lys | |
| ENST00000419600.3:n.535C>A | ||
| ENST00000465127.1:c.681C>A | ENSP00000417050.1:p.Asn227Lys | |
| ENST00000471410.5:c.*617C>A | ENSP00000419290.1:n.*617C>A | |
| ENST00000475216.5:c.*584C>A | ENSP00000418586.1:n.*584C>A | |
| NM_004615.3:c.591C>A | NP_004606.2:p.Asn197Lys | |
| NM_004615.4:c.591C>A MANE Select | NP_004606.2:p.Asn197Lys |