Linked Data
ClinVar Variation Id:
958080
ClinVar RCV Id:
RCV001231178
dbSNP Id:
rs767078596
ExAC:
1:236920810 C / G
gnomAD v2:
1-236920810-C-G
gnomAD v4:
1-236757510-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236757510C>G , CM000663.2:g.236757510C>G | GRCh38 |
| NC_000001.10:g.236920810C>G , CM000663.1:g.236920810C>G | GRCh37 |
| NC_000001.9:g.234987433C>G | NCBI36 |
| NG_009081.1:g.76041C>G | |
| NG_009081.2:g.98370C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2179C>G | ENSP00000443495.1:p.Leu727Val | |
| ENST00000461367.2:n.475C>G | ||
| ENST00000492634.7:n.2109C>G | ||
| ENST00000682015.1:c.2086C>G | ENSP00000506961.1:p.Leu696Val | |
| ENST00000682490.1:n.97C>G | ||
| ENST00000682692.1:n.3274C>G | ||
| ENST00000682966.1:n.7820C>G | ||
| ENST00000683111.1:c.*1465C>G | ENSP00000507913.1:n.*1465C>G | |
| ENST00000683322.1:n.3531C>G | ||
| ENST00000683805.1:n.970C>G | ||
| ENST00000684050.1:n.4817C>G | ||
| ENST00000684122.1:n.326C>G | ||
| ENST00000684286.1:n.3734C>G | ||
| ENST00000684502.1:n.3476C>G | ||
| ENST00000684763.1:n.794C>G | ||
| ENST00000366578.6:c.2179C>G MANE Select | ENSP00000355537.4:p.Leu727Val | |
| ENST00000492634.6:n.2109C>G | ||
| ENST00000542672.6:c.2179C>G | ENSP00000443495.1:p.Leu727Val | |
| ENST00000651091.1:c.1869C>G | ENSP00000498677.1:n.1869C>G | |
| ENST00000651275.1:c.2071C>G | ENSP00000498926.1:p.Leu691Val | |
| ENST00000651781.1:c.1259C>G | ||
| ENST00000651786.1:c.*1551C>G | ENSP00000498364.1:n.*1551C>G | |
| ENST00000652096.1:c.*1584C>G | ENSP00000498896.1:n.*1584C>G | |
| ENST00000366578.5:c.2179C>G | ENSP00000355537.4:p.Leu727Val | |
| ENST00000461367.1:n.388C>G | ||
| ENST00000542672.5:c.2179C>G | ENSP00000443495.1:p.Leu727Val | |
| ENST00000546208.5:c.1555C>G | ENSP00000438384.2:p.Leu519Val | |
| NM_001103.3:c.2179C>G | NP_001094.1:p.Leu727Val | |
| NM_001278343.1:c.2179C>G | NP_001265272.1:p.Leu727Val | |
| NM_001278344.1:c.1555C>G | NP_001265273.1:p.Leu519Val | |
| NM_001278343.2:c.2179C>G | NP_001265272.1:p.Leu727Val | |
| NM_001103.4:c.2179C>G MANE Select | NP_001094.1:p.Leu727Val | |
| NM_001278344.2:c.1555C>G | NP_001265273.1:p.Leu519Val |