Linked Data
ClinVar Variation Id:
988057
ClinVar RCV Id:
RCV001269449
dbSNP Id:
rs776948275
gnomAD v2:
16-88876519-C-A
gnomAD v3:
16-88810111-C-A
gnomAD v4:
16-88810111-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810111C>A , CM000678.2:g.88810111C>A | GRCh38 |
| NC_000016.9:g.88876519C>A , CM000678.1:g.88876519C>A | GRCh37 |
| NC_000016.8:g.87404020C>A | NCBI36 |
| NG_008013.1:g.6824G>T | |
| NG_028266.1:g.11334C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.359G>T MANE Select | ENSP00000367615.3:p.Gly120Val | |
| ENST00000378364.7:c.359G>T | ENSP00000367615.3:p.Gly120Val | |
| ENST00000426324.6:c.359G>T | ENSP00000397007.2:p.Gly120Val | |
| ENST00000562464.1:n.369G>T | ||
| ENST00000563655.5:c.278G>T | ENSP00000456012.1:p.Gly93Val | |
| ENST00000567057.5:n.158G>T | ||
| ENST00000567391.5:c.*33G>T | ENSP00000457964.1:n.*33G>T | |
| ENST00000567713.5:c.321+312G>T | ENSP00000455749.1:n.321+312G>T | |
| ENST00000568319.5:c.*33G>T | ENSP00000456905.1:n.*33G>T | |
| ENST00000568575.1:n.288G>T | ||
| ENST00000569616.1:c.357G>T | ||
| NM_000485.2:c.359G>T | NP_000476.1:p.Gly120Val | |
| NM_001030018.1:c.359G>T | NP_001025189.1:p.Gly120Val | |
| NM_000485.3:c.359G>T MANE Select | NP_000476.1:p.Gly120Val | |
| NM_001030018.2:c.359G>T | NP_001025189.1:p.Gly120Val |