Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675859A>C , CM000685.2:g.38675859A>C | GRCh38 |
| NC_000023.10:g.38535113A>C , CM000685.1:g.38535113A>C | GRCh37 |
| NC_000023.9:g.38420057A>C | NCBI36 |
| NG_009160.1:g.119383A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.596A>C MANE Select | ENSP00000367743.2:p.Lys199Thr | |
| ENST00000286824.6:c.647A>C | ENSP00000286824.6:p.Lys216Thr | |
| ENST00000378482.6:c.596A>C | ENSP00000367743.2:p.Lys199Thr | |
| ENST00000419600.3:n.540A>C | ||
| ENST00000465127.1:c.686A>C | ENSP00000417050.1:p.Lys229Thr | |
| ENST00000471410.5:c.*622A>C | ENSP00000419290.1:n.*622A>C | |
| ENST00000475216.5:c.*589A>C | ENSP00000418586.1:n.*589A>C | |
| NM_004615.3:c.596A>C | NP_004606.2:p.Lys199Thr | |
| NM_004615.4:c.596A>C MANE Select | NP_004606.2:p.Lys199Thr |