Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675847A>T , CM000685.2:g.38675847A>T | GRCh38 |
| NC_000023.10:g.38535101A>T , CM000685.1:g.38535101A>T | GRCh37 |
| NC_000023.9:g.38420045A>T | NCBI36 |
| NG_009160.1:g.119371A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.584A>T MANE Select | ENSP00000367743.2:p.Lys195Ile | |
| ENST00000286824.6:c.635A>T | ENSP00000286824.6:p.Lys212Ile | |
| ENST00000378482.6:c.584A>T | ENSP00000367743.2:p.Lys195Ile | |
| ENST00000419600.3:n.528A>T | ||
| ENST00000465127.1:c.674A>T | ENSP00000417050.1:p.Lys225Ile | |
| ENST00000471410.5:c.*610A>T | ENSP00000419290.1:n.*610A>T | |
| ENST00000475216.5:c.*577A>T | ENSP00000418586.1:n.*577A>T | |
| NM_004615.3:c.584A>T | NP_004606.2:p.Lys195Ile | |
| NM_004615.4:c.584A>T MANE Select | NP_004606.2:p.Lys195Ile |