Linked Data
ClinVar Variation Id:
1320760
ClinVar RCV Id:
RCV001776739
dbSNP Id:
rs759136937
ExAC:
4:6303296 C / G
gnomAD v2:
4-6303296-C-G
gnomAD v3:
4-6301569-C-G
gnomAD v4:
4-6301569-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301569C>G , CM000666.2:g.6301569C>G | GRCh38 |
| NC_000004.11:g.6303296C>G , CM000666.1:g.6303296C>G | GRCh37 |
| NC_000004.10:g.6354197C>G | NCBI36 |
| NG_011700.1:g.36720C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1810C>G | ENSP00000507852.1:p.Leu604Val | |
| ENST00000683395.1:c.1751C>G | ||
| ENST00000684087.1:c.1774C>G | ENSP00000506978.1:p.Leu592Val | |
| ENST00000506362.2:c.1525C>G | ENSP00000424103.2:p.Leu509Val | |
| ENST00000673642.1:c.1433C>G | ENSP00000501242.1:n.1433C>G | |
| ENST00000673991.1:c.1810C>G | ENSP00000501033.1:p.Leu604Val | |
| ENST00000226760.5:c.1774C>G MANE Select | ENSP00000226760.1:p.Leu592Val | |
| ENST00000503569.5:c.1774C>G | ENSP00000423337.1:p.Leu592Val | |
| ENST00000507765.1:n.1959C>G | ||
| NM_001145853.1:c.1774C>G | NP_001139325.1:p.Leu592Val | |
| NM_006005.3:c.1774C>G MANE Select | NP_005996.2:p.Leu592Val | |
| XM_017008586.1:c.1783C>G | XP_016864075.1:p.Leu595Val |