Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675858A>C , CM000685.2:g.38675858A>C | GRCh38 |
| NC_000023.10:g.38535112A>C , CM000685.1:g.38535112A>C | GRCh37 |
| NC_000023.9:g.38420056A>C | NCBI36 |
| NG_009160.1:g.119382A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.595A>C MANE Select | ENSP00000367743.2:p.Lys199Gln | |
| ENST00000286824.6:c.646A>C | ENSP00000286824.6:p.Lys216Gln | |
| ENST00000378482.6:c.595A>C | ENSP00000367743.2:p.Lys199Gln | |
| ENST00000419600.3:n.539A>C | ||
| ENST00000465127.1:c.685A>C | ENSP00000417050.1:p.Lys229Gln | |
| ENST00000471410.5:c.*621A>C | ENSP00000419290.1:n.*621A>C | |
| ENST00000475216.5:c.*588A>C | ENSP00000418586.1:n.*588A>C | |
| NM_004615.3:c.595A>C | NP_004606.2:p.Lys199Gln | |
| NM_004615.4:c.595A>C MANE Select | NP_004606.2:p.Lys199Gln |