Linked Data
ClinVar Variation Id:
1098705
ClinVar RCV Id:
RCV001420668
dbSNP Id:
rs1734562238
gnomAD v4:
4-157321456-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157321456C>G , CM000666.2:g.157321456C>G | GRCh38 |
| NC_000004.11:g.158242608C>G , CM000666.1:g.158242608C>G | GRCh37 |
| NC_000004.10:g.158462058C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703717.1:c.598C>G | ENSP00000515446.1:p.Leu200Val | |
| ENST00000703718.1:c.499C>G | ENSP00000515447.1:p.Leu167Val | |
| ENST00000703719.1:c.306C>G | ||
| ENST00000703750.1:c.598C>G | ENSP00000515459.1:p.Leu200Val | |
| ENST00000703751.1:c.739C>G | ENSP00000515460.1:p.Leu247Val | |
| ENST00000703752.1:c.598C>G | ENSP00000515461.1:p.Leu200Val | |
| ENST00000703753.1:c.739C>G | ENSP00000515462.1:p.Leu247Val | |
| ENST00000703754.1:c.598C>G | ENSP00000515463.1:p.Leu200Val | |
| ENST00000703755.1:c.739C>G | ENSP00000515464.1:p.Leu247Val | |
| ENST00000703756.1:c.499C>G | ENSP00000515465.1:p.Leu167Val | |
| ENST00000703757.1:c.*8C>G | ENSP00000515466.1:n.*8C>G | |
| ENST00000703758.1:n.1064C>G | ||
| ENST00000703759.1:c.739C>G | ENSP00000515467.1:p.Leu247Val | |
| ENST00000703760.1:c.739C>G | ENSP00000515468.1:p.Leu247Val | |
| ENST00000703761.1:c.525+8581C>G | ENSP00000515469.1:n.525+8581C>G | |
| ENST00000703762.1:n.1052C>G | ||
| ENST00000703763.1:c.739C>G | ENSP00000515470.1:p.Leu247Val | |
| ENST00000703764.1:c.598C>G | ENSP00000515471.1:p.Leu200Val | |
| ENST00000703765.1:c.598C>G | ENSP00000515472.1:p.Leu200Val | |
| ENST00000703766.1:c.548C>G | ||
| ENST00000703767.1:c.358C>G | ENSP00000515474.1:p.Leu120Val | |
| ENST00000264426.14:c.739C>G MANE Select | ENSP00000264426.9:p.Leu247Val | |
| ENST00000296526.12:c.739C>G | ENSP00000296526.7:p.Leu247Val | |
| ENST00000645636.1:c.739C>G | ENSP00000495569.1:p.Leu247Val | |
| ENST00000264426.13:c.739C>G | ENSP00000264426.9:p.Leu247Val | |
| ENST00000296526.11:c.739C>G | ENSP00000296526.7:p.Leu247Val | |
| ENST00000323661.10:c.598C>G | ENSP00000318144.6:p.Leu200Val | |
| ENST00000393815.6:c.598C>G | ENSP00000377403.2:p.Leu200Val | |
| ENST00000471736.5:n.1058C>G | ||
| ENST00000507898.5:c.598C>G | ENSP00000426845.1:p.Leu200Val | |
| NM_000826.3:c.739C>G | NP_000817.2:p.Leu247Val | |
| NM_001083619.1:c.739C>G | NP_001077088.1:p.Leu247Val | |
| NM_001083620.1:c.598C>G | NP_001077089.1:p.Leu200Val | |
| XM_011531892.1:c.739C>G | XP_011530194.1:p.Leu247Val | |
| XR_938725.1:n.1197C>G | ||
| XR_001741212.2:n.1159C>G | ||
| NM_000826.4:c.739C>G | NP_000817.3:p.Leu247Val | |
| NM_000826.6:c.739C>G | NP_000817.5:p.Leu247Val | |
| NM_001083619.3:c.739C>G MANE Select | NP_001077088.2:p.Leu247Val | |
| NM_001083620.3:c.598C>G | NP_001077089.2:p.Leu200Val | |
| NM_001379000.3:c.598C>G | NP_001365929.3:p.Leu200Val | |
| NM_001379001.3:c.598C>G | NP_001365930.3:p.Leu200Val |