Linked Data
ClinVar Variation Id:
1040716
ClinVar RCV Id:
RCV001344405
dbSNP Id:
rs1659743387
gnomAD v4:
1-236762586-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762586C>G , CM000663.2:g.236762586C>G | GRCh38 |
| NC_000001.10:g.236925886C>G , CM000663.1:g.236925886C>G | GRCh37 |
| NC_000001.9:g.234992509C>G | NCBI36 |
| NG_009081.1:g.81117C>G | |
| NG_009081.2:g.103446C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2652C>G | ENSP00000443495.1:p.Phe884Leu | |
| ENST00000461367.2:n.948C>G | ||
| ENST00000492634.7:n.2582C>G | ||
| ENST00000682015.1:c.2559C>G | ENSP00000506961.1:p.Phe853Leu | |
| ENST00000682490.1:n.570C>G | ||
| ENST00000682692.1:n.3747C>G | ||
| ENST00000682966.1:n.8293C>G | ||
| ENST00000683111.1:c.*1938C>G | ENSP00000507913.1:n.*1938C>G | |
| ENST00000683322.1:n.4004C>G | ||
| ENST00000683805.1:n.1443C>G | ||
| ENST00000684050.1:n.5290C>G | ||
| ENST00000684122.1:n.2086C>G | ||
| ENST00000684286.1:n.4207C>G | ||
| ENST00000684502.1:n.3949C>G | ||
| ENST00000684763.1:n.1267C>G | ||
| ENST00000366578.6:c.2652C>G MANE Select | ENSP00000355537.4:p.Phe884Leu | |
| ENST00000492634.6:n.2582C>G | ||
| ENST00000542672.6:c.2652C>G | ENSP00000443495.1:p.Phe884Leu | |
| ENST00000651091.1:c.2342C>G | ENSP00000498677.1:n.2342C>G | |
| ENST00000651275.1:c.2544C>G | ENSP00000498926.1:p.Phe848Leu | |
| ENST00000651781.1:c.1732C>G | ||
| ENST00000651786.1:c.*2024C>G | ENSP00000498364.1:n.*2024C>G | |
| ENST00000652096.1:c.*2057C>G | ENSP00000498896.1:n.*2057C>G | |
| ENST00000366578.5:c.2652C>G | ENSP00000355537.4:p.Phe884Leu | |
| ENST00000542672.5:c.2652C>G | ENSP00000443495.1:p.Phe884Leu | |
| ENST00000546208.5:c.2028C>G | ENSP00000438384.2:p.Phe676Leu | |
| NM_001103.3:c.2652C>G | NP_001094.1:p.Phe884Leu | |
| NM_001278343.1:c.2652C>G | NP_001265272.1:p.Phe884Leu | |
| NM_001278344.1:c.2028C>G | NP_001265273.1:p.Phe676Leu | |
| NM_001278343.2:c.2652C>G | NP_001265272.1:p.Phe884Leu | |
| NM_001103.4:c.2652C>G MANE Select | NP_001094.1:p.Phe884Leu | |
| NM_001278344.2:c.2028C>G | NP_001265273.1:p.Phe676Leu |