Linked Data
ClinVar Variation Id:
954846
ClinVar RCV Id:
RCV001227374
dbSNP Id:
rs1196167380
gnomAD v4:
1-236754050-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236754050C>G , CM000663.2:g.236754050C>G | GRCh38 |
| NC_000001.10:g.236917350C>G , CM000663.1:g.236917350C>G | GRCh37 |
| NC_000001.9:g.234983973C>G | NCBI36 |
| NG_009081.1:g.72581C>G | |
| NG_009081.2:g.94910C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.1943C>G | ENSP00000443495.1:p.Ala648Gly | |
| ENST00000461367.2:n.239C>G | ||
| ENST00000492634.7:n.1873C>G | ||
| ENST00000682015.1:c.1850C>G | ENSP00000506961.1:p.Ala617Gly | |
| ENST00000682692.1:n.3038C>G | ||
| ENST00000682966.1:n.7584C>G | ||
| ENST00000683111.1:c.*1229C>G | ENSP00000507913.1:n.*1229C>G | |
| ENST00000683322.1:n.3295C>G | ||
| ENST00000684050.1:n.4581C>G | ||
| ENST00000684286.1:n.3498C>G | ||
| ENST00000684502.1:n.3240C>G | ||
| ENST00000684763.1:n.558C>G | ||
| ENST00000366578.6:c.1943C>G MANE Select | ENSP00000355537.4:p.Ala648Gly | |
| ENST00000492634.6:n.1873C>G | ||
| ENST00000542672.6:c.1943C>G | ENSP00000443495.1:p.Ala648Gly | |
| ENST00000651091.1:c.1633C>G | ENSP00000498677.1:n.1633C>G | |
| ENST00000651275.1:c.1835C>G | ENSP00000498926.1:p.Ala612Gly | |
| ENST00000651781.1:c.1023C>G | ||
| ENST00000651786.1:c.*1315C>G | ENSP00000498364.1:n.*1315C>G | |
| ENST00000652096.1:c.*1348C>G | ENSP00000498896.1:n.*1348C>G | |
| ENST00000366578.5:c.1943C>G | ENSP00000355537.4:p.Ala648Gly | |
| ENST00000461367.1:n.152C>G | ||
| ENST00000542672.5:c.1943C>G | ENSP00000443495.1:p.Ala648Gly | |
| ENST00000546208.5:c.1319C>G | ENSP00000438384.2:p.Ala440Gly | |
| NM_001103.3:c.1943C>G | NP_001094.1:p.Ala648Gly | |
| NM_001278343.1:c.1943C>G | NP_001265272.1:p.Ala648Gly | |
| NM_001278344.1:c.1319C>G | NP_001265273.1:p.Ala440Gly | |
| NM_001278343.2:c.1943C>G | NP_001265272.1:p.Ala648Gly | |
| NM_001103.4:c.1943C>G MANE Select | NP_001094.1:p.Ala648Gly | |
| NM_001278344.2:c.1319C>G | NP_001265273.1:p.Ala440Gly |