Linked Data
ClinVar Variation Id:
350477
dbSNP Id:
rs149665666
gnomAD v2:
5-118877967-T-A
gnomAD v3:
5-119542272-T-A
gnomAD v4:
5-119542272-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119542272T>A , CM000667.2:g.119542272T>A | GRCh38 |
| NC_000005.9:g.118877967T>A , CM000667.1:g.118877967T>A | GRCh37 |
| NC_000005.8:g.118905866T>A | NCBI36 |
| NG_008182.1:g.94820T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.*278T>A | ENSP00000426272.2:n.*278T>A | |
| ENST00000518349.6:c.*278T>A | ENSP00000507185.1:n.*278T>A | |
| ENST00000682445.1:c.*2370T>A | ENSP00000508061.1:n.*2370T>A | |
| ENST00000682531.1:n.4381T>A | ||
| ENST00000682626.1:c.*1995T>A | ENSP00000507857.1:n.*1995T>A | |
| ENST00000682996.1:c.*278T>A | ENSP00000507792.1:n.*278T>A | |
| ENST00000683265.1:n.4275T>A | ||
| ENST00000683335.1:n.3891T>A | ||
| ENST00000683371.1:c.*2619T>A | ENSP00000508376.1:n.*2619T>A | |
| ENST00000683372.1:n.4499T>A | ||
| ENST00000683390.1:n.9197T>A | ||
| ENST00000683476.1:n.1331T>A | ||
| ENST00000683549.1:n.4103T>A | ||
| ENST00000683936.1:c.*4067T>A | ENSP00000507721.1:n.*4067T>A | |
| ENST00000683974.1:n.4218T>A | ||
| ENST00000684131.1:n.4021T>A | ||
| ENST00000684160.1:c.*2179T>A | ENSP00000507821.1:n.*2179T>A | |
| ENST00000684214.1:c.*484T>A | ENSP00000508071.1:n.*484T>A | |
| ENST00000414835.7:c.*278T>A | ENSP00000411960.3:n.*278T>A | |
| ENST00000510025.7:c.*278T>A MANE Select | ENSP00000424940.3:n.*278T>A | |
| ENST00000643250.1:c.*2361T>A | ENSP00000494737.1:n.*2361T>A | |
| ENST00000643897.1:c.113+5722T>A | ||
| ENST00000644146.1:c.*3760T>A | ENSP00000494808.1:n.*3760T>A | |
| ENST00000645702.1:c.*1892T>A | ENSP00000496432.1:n.*1892T>A | |
| ENST00000646058.1:c.2121+5722T>A | ENSP00000493579.1:n.2121+5722T>A | |
| ENST00000646355.1:c.*2495T>A | ENSP00000493801.1:n.*2495T>A | |
| ENST00000646554.1:c.*2467T>A | ENSP00000494542.1:n.*2467T>A | |
| ENST00000647335.1:c.*2456T>A | ENSP00000495180.1:n.*2456T>A | |
| ENST00000647342.1:c.*2420T>A | ENSP00000494992.1:n.*2420T>A | |
| ENST00000256216.10:c.*278T>A | ENSP00000256216.6:n.*278T>A | |
| ENST00000414835.6:c.*278T>A | ENSP00000411960.2:n.*278T>A | |
| ENST00000442060.7:c.*1044T>A | ENSP00000390208.3:n.*1044T>A | |
| ENST00000509606.1:n.784T>A | ||
| ENST00000509951.5:n.677T>A | ||
| ENST00000515235.6:n.3874+5722T>A | ||
| NM_000414.3:c.*278T>A | NP_000405.1:n.*278T>A | |
| NM_001199291.2:c.*278T>A | NP_001186220.1:n.*278T>A | |
| NM_001199292.1:c.*278T>A | NP_001186221.1:n.*278T>A | |
| NM_001292027.1:c.*278T>A | NP_001278956.1:n.*278T>A | |
| NM_001292028.1:c.*278T>A | NP_001278957.1:n.*278T>A | |
| NM_000414.4:c.*278T>A MANE Select | NP_000405.1:n.*278T>A | |
| NM_001199291.3:c.*278T>A | NP_001186220.1:n.*278T>A | |
| NM_001199292.2:c.*278T>A | NP_001186221.1:n.*278T>A | |
| NM_001292027.2:c.*278T>A | NP_001278956.1:n.*278T>A | |
| NM_001292028.2:c.*278T>A | NP_001278957.1:n.*278T>A | |
| NM_001374497.1:c.*278T>A | NP_001361426.1:n.*278T>A | |
| NM_001374498.1:c.*278T>A | NP_001361427.1:n.*278T>A | |
| NM_001374499.1:c.*278T>A | NP_001361428.1:n.*278T>A | |
| NM_001374500.1:c.*278T>A | NP_001361429.1:n.*278T>A | |
| NM_001374501.1:c.*278T>A | NP_001361430.1:n.*278T>A | |
| NM_001374502.1:c.*278T>A | NP_001361431.1:n.*278T>A | |
| NM_001374503.1:c.*278T>A | NP_001361432.1:n.*278T>A | |
| NR_164653.1:n.2586T>A | ||
| NR_164654.1:n.2854T>A |