Linked Data
dbSNP Id:
rs369288715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506751G>C , CM000672.2:g.122506751G>C | GRCh38 |
| NC_000010.10:g.124266267G>C , CM000672.1:g.124266267G>C | GRCh37 |
| NC_000010.9:g.124256257G>C | NCBI36 |
| NG_011554.1:g.50227G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.838G>C MANE Select | ENSP00000357980.3:p.Val280Leu | |
| ENST00000648167.1:c.520G>C | ENSP00000498033.1:p.Val174Leu | |
| ENST00000368984.7:c.838G>C | ENSP00000357980.3:p.Val280Leu | |
| ENST00000420892.1:c.61G>C | ENSP00000412676.1:p.Val21Leu | |
| NM_002775.4:c.838G>C | NP_002766.1:p.Val280Leu | |
| NM_002775.5:c.838G>C MANE Select | NP_002766.1:p.Val280Leu |