Linked Data
ClinVar Variation Id:
1319888
ClinVar RCV Id:
RCV003238134
dbSNP Id:
rs199505105
gnomAD v4:
16-13934251-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13934251T>G , CM000678.2:g.13934251T>G | GRCh38 |
| NC_000016.9:g.14028108T>G , CM000678.1:g.14028108T>G | GRCh37 |
| NC_000016.8:g.13935609T>G | NCBI36 |
| NG_011442.1:g.19095T>G , LRG_463:g.19095T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.1150T>G | ||
| ENST00000682568.1:n.1240T>G | ||
| ENST00000682617.1:c.1300T>G | ENSP00000507912.1:p.Leu434Val | |
| ENST00000682826.1:c.*476T>G | ENSP00000507274.1:n.*476T>G | |
| ENST00000682909.1:n.3202T>G | ||
| ENST00000683277.1:n.2807T>G | ||
| ENST00000683407.1:n.1170T>G | ||
| ENST00000683962.1:c.*856T>G | ENSP00000506854.1:n.*856T>G | |
| ENST00000311895.8:c.1162T>G MANE Select | ENSP00000310520.7:p.Leu388Val | |
| ENST00000311895.7:c.1162T>G | ENSP00000310520.7:p.Leu388Val | |
| ENST00000389138.7:n.439T>G | ||
| ENST00000573018.1:n.230T>G | ||
| NM_005236.2:c.1162T>G , LRG_463t1:c.1162T>G | NP_005227.1:p.Leu388Val | |
| XM_011522424.1:c.1300T>G | XP_011520726.1:p.Leu434Val | |
| XM_011522425.1:c.619T>G | XP_011520727.1:p.Leu207Val | |
| XM_011522426.1:c.373T>G | XP_011520728.1:p.Leu125Val | |
| XM_011522427.1:c.-189T>G | XP_011520729.1:n.-189T>G | |
| XR_932805.1:n.1321T>G | ||
| XM_011522424.3:c.1300T>G | XP_011520726.1:p.Leu434Val | |
| XM_017023043.2:c.373T>G | XP_016878532.1:p.Leu125Val | |
| NM_005236.3:c.1162T>G MANE Select | NP_005227.1:p.Leu388Val |