Linked Data
ClinVar Variation Id:
313199
dbSNP Id:
rs144215747
ExAC:
14:45628478 C / G
gnomAD v2:
14-45628478-C-G
gnomAD v3:
14-45159275-C-G
gnomAD v4:
14-45159275-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45159275C>G , CM000676.2:g.45159275C>G | GRCh38 |
| NC_000014.8:g.45628478C>G , CM000676.1:g.45628478C>G | GRCh37 |
| NC_000014.7:g.44698228C>G | NCBI36 |
| NG_007417.1:g.28343C>G , LRG_502:g.28343C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556036.6:c.1576C>G | ENSP00000450596.1:p.Leu526Val | |
| ENST00000556250.6:c.1576C>G | ENSP00000452033.2:p.Leu526Val | |
| ENST00000696641.1:c.1417C>G | ENSP00000512774.1:p.Leu473Val | |
| ENST00000696642.1:c.*387C>G | ENSP00000512775.1:n.*387C>G | |
| ENST00000696643.1:c.1576C>G | ENSP00000512776.1:p.Leu526Val | |
| ENST00000696646.1:c.*387C>G | ENSP00000512777.1:n.*387C>G | |
| ENST00000696647.1:c.1576C>G | ENSP00000512778.1:p.Leu526Val | |
| ENST00000696648.1:c.1576C>G | ENSP00000512779.1:p.Leu526Val | |
| ENST00000696649.1:c.1576C>G | ENSP00000512780.1:p.Leu526Val | |
| ENST00000696650.1:n.1524C>G | ||
| ENST00000696658.1:n.2126C>G | ||
| ENST00000696662.1:c.1498C>G | ENSP00000512788.1:p.Leu500Val | |
| ENST00000696663.1:c.393C>G | ||
| ENST00000696664.1:c.393C>G | ||
| ENST00000696675.1:c.1576C>G | ENSP00000512799.1:p.Leu526Val | |
| ENST00000696680.1:c.1444C>G | ENSP00000512803.1:p.Leu482Val | |
| ENST00000696681.1:c.*387C>G | ENSP00000512804.1:n.*387C>G | |
| ENST00000696682.1:c.1576C>G | ENSP00000512805.1:p.Leu526Val | |
| ENST00000696683.1:c.393C>G | ||
| ENST00000696684.1:c.393C>G | ||
| ENST00000696685.1:c.393C>G | ||
| ENST00000267430.10:c.1576C>G MANE Select | ENSP00000267430.5:p.Leu526Val | |
| ENST00000267430.9:c.1576C>G | ENSP00000267430.5:p.Leu526Val | |
| ENST00000542564.6:c.1498C>G | ENSP00000442493.2:p.Leu500Val | |
| ENST00000556036.5:c.1576C>G | ENSP00000450596.1:p.Leu526Val | |
| ENST00000556250.5:c.331C>G | ENSP00000452033.1:p.Leu111Val | |
| NM_001308133.1:c.1498C>G | NP_001295062.1:p.Leu500Val | |
| NM_001308134.1:c.1576C>G | NP_001295063.1:p.Leu526Val | |
| NM_020937.2:c.1576C>G , LRG_502t1:c.1576C>G | NP_065988.1:p.Leu526Val | |
| NM_020937.3:c.1576C>G | NP_065988.1:p.Leu526Val | |
| XM_011537034.1:c.1576C>G | XP_011535336.1:p.Leu526Val | |
| XM_011537035.1:c.1498C>G | XP_011535337.1:p.Leu500Val | |
| XM_011537036.1:c.1576C>G | XP_011535338.1:p.Leu526Val | |
| XM_011537034.2:c.1576C>G | XP_011535336.1:p.Leu526Val | |
| XM_011537035.3:c.1498C>G | XP_011535337.1:p.Leu500Val | |
| XM_017021523.1:c.1576C>G | XP_016877012.1:p.Leu526Val | |
| XM_017021524.2:c.613C>G | XP_016877013.1:p.Leu205Val | |
| XM_017021525.2:c.391C>G | XP_016877014.1:p.Leu131Val | |
| XM_017021526.2:c.391C>G | XP_016877015.1:p.Leu131Val | |
| XM_017021527.1:c.391C>G | XP_016877016.1:p.Leu131Val | |
| XR_001750470.1:n.1668C>G | ||
| XR_001750471.2:n.1668C>G | ||
| XR_001750472.1:n.1668C>G | ||
| NM_020937.4:c.1576C>G MANE Select | NP_065988.1:p.Leu526Val | |
| NM_001308133.2:c.1498C>G | NP_001295062.1:p.Leu500Val | |
| NM_001308134.2:c.1576C>G | NP_001295063.1:p.Leu526Val |