Linked Data
ClinVar Variation Id:
1794369
ClinVar RCV Id:
RCV002453095
dbSNP Id:
rs1567800850
gnomAD v4:
17-43094423-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094423C>A , CM000679.2:g.43094423C>A | GRCh38 |
| NC_000017.10:g.41246440C>A , CM000679.1:g.41246440C>A | GRCh37 |
| NC_000017.9:g.38499966C>A | NCBI36 |
| NG_005905.2:g.123561G>T , LRG_292:g.123561G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1172G>T | ||
| ENST00000461574.2:c.1108G>T | ENSP00000417241.2:p.Val370Phe | |
| ENST00000470026.6:c.1108G>T | ENSP00000419274.2:p.Val370Phe | |
| ENST00000473961.6:c.982G>T | ENSP00000420201.2:p.Val328Phe | |
| ENST00000476777.6:c.1105G>T | ENSP00000417554.2:p.Val369Phe | |
| ENST00000477152.6:c.1030G>T | ENSP00000419988.2:p.Val344Phe | |
| ENST00000478531.6:c.784+321G>T | ENSP00000420412.2:n.784+321G>T | |
| ENST00000489037.2:c.1030G>T | ENSP00000420781.2:p.Val344Phe | |
| ENST00000493919.6:c.646+321G>T | ENSP00000418819.2:n.646+321G>T | |
| ENST00000494123.6:c.1108G>T | ENSP00000419103.2:p.Val370Phe | |
| ENST00000497488.2:c.220G>T | ENSP00000418986.2:p.Val74Phe | |
| ENST00000618469.2:c.1108G>T | ENSP00000478114.2:p.Val370Phe | |
| ENST00000634433.2:c.985G>T | ENSP00000489431.2:p.Val329Phe | |
| ENST00000644379.2:c.1108G>T | ENSP00000496570.2:p.Val370Phe | |
| ENST00000644555.2:c.646+321G>T | ENSP00000494614.2:n.646+321G>T | |
| ENST00000652672.2:c.967G>T | ENSP00000498906.2:p.Val323Phe | |
| ENST00000484087.6:c.664+321G>T | ENSP00000419481.2:n.664+321G>T | |
| ENST00000700182.1:c.706+321G>T | ENSP00000514849.1:n.706+321G>T | |
| ENST00000700183.1:c.*1116G>T | ENSP00000514850.1:n.*1116G>T | |
| ENST00000357654.9:c.1108G>T MANE Select | ENSP00000350283.3:p.Val370Phe | |
| ENST00000471181.7:c.1108G>T | ENSP00000418960.2:p.Val370Phe | |
| ENST00000652672.1:c.967G>T | ENSP00000498906.1:p.Val323Phe | |
| ENST00000352993.7:c.670+1423G>T | ENSP00000312236.5:n.670+1423G>T | |
| ENST00000354071.7:c.1108G>T | ENSP00000326002.7:p.Val370Phe | |
| ENST00000357654.7:c.1108G>T | ENSP00000350283.3:p.Val370Phe | |
| ENST00000412061.3:c.459G>T | ||
| ENST00000461221.5:c.*891G>T | ENSP00000418548.1:n.*891G>T | |
| ENST00000468300.5:c.787+321G>T | ENSP00000417148.1:n.787+321G>T | |
| ENST00000470026.5:c.1108G>T | ENSP00000419274.1:p.Val370Phe | |
| ENST00000471181.6:c.1108G>T | ENSP00000418960.2:p.Val370Phe | |
| ENST00000473961.5:c.705G>T | ||
| ENST00000477152.5:c.1030G>T | ENSP00000419988.1:p.Val344Phe | |
| ENST00000478531.5:c.784+321G>T | ENSP00000420412.1:n.784+321G>T | |
| ENST00000484087.5:c.409+321G>T | ENSP00000419481.1:n.409+321G>T | |
| ENST00000487825.5:c.412+321G>T | ENSP00000418212.1:n.412+321G>T | |
| ENST00000491747.6:c.787+321G>T | ENSP00000420705.2:n.787+321G>T | |
| ENST00000492859.5:c.*1044G>T | ENSP00000420253.1:n.*1044G>T | |
| ENST00000493795.5:c.967G>T | ENSP00000418775.1:p.Val323Phe | |
| ENST00000493919.5:c.646+321G>T | ENSP00000418819.1:n.646+321G>T | |
| ENST00000494123.5:c.1108G>T | ENSP00000419103.1:p.Val370Phe | |
| ENST00000497488.1:c.220G>T | ENSP00000418986.1:p.Val74Phe | |
| ENST00000586385.5:c.5-30472G>T | ENSP00000465818.1:n.5-30472G>T | |
| ENST00000591534.5:c.-43-19902G>T | ENSP00000467329.1:n.-43-19902G>T | |
| ENST00000591849.5:c.-99+30848G>T | ENSP00000465347.1:n.-99+30848G>T | |
| ENST00000634433.1:c.985G>T | ENSP00000489431.1:p.Val329Phe | |
| NM_007294.3:c.1108G>T , LRG_292t1:c.1108G>T | NP_009225.1:p.Val370Phe | |
| NM_007297.3:c.967G>T | NP_009228.2:p.Val323Phe | |
| NM_007298.3:c.787+321G>T | NP_009229.2:n.787+321G>T | |
| NM_007299.3:c.787+321G>T | NP_009230.2:n.787+321G>T | |
| NM_007300.3:c.1108G>T | NP_009231.2:p.Val370Phe | |
| NR_027676.1:n.1244G>T | ||
| NM_007294.4:c.1108G>T MANE Select | NP_009225.1:p.Val370Phe | |
| NM_007297.4:c.967G>T | NP_009228.2:p.Val323Phe | |
| NM_007299.4:c.787+321G>T | NP_009230.2:n.787+321G>T | |
| NM_007300.4:c.1108G>T | NP_009231.2:p.Val370Phe | |
| NR_027676.2:n.1285G>T |