Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675838C>T , CM000685.2:g.38675838C>T | GRCh38 |
| NC_000023.10:g.38535092C>T , CM000685.1:g.38535092C>T | GRCh37 |
| NC_000023.9:g.38420036C>T | NCBI36 |
| NG_009160.1:g.119362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.575C>T MANE Select | ENSP00000367743.2:p.Ala192Val | |
| ENST00000286824.6:c.626C>T | ENSP00000286824.6:p.Ala209Val | |
| ENST00000378482.6:c.575C>T | ENSP00000367743.2:p.Ala192Val | |
| ENST00000419600.3:n.519C>T | ||
| ENST00000465127.1:c.665C>T | ENSP00000417050.1:p.Ala222Val | |
| ENST00000471410.5:c.*601C>T | ENSP00000419290.1:n.*601C>T | |
| ENST00000475216.5:c.*568C>T | ENSP00000418586.1:n.*568C>T | |
| NM_004615.3:c.575C>T | NP_004606.2:p.Ala192Val | |
| NM_004615.4:c.575C>T MANE Select | NP_004606.2:p.Ala192Val |