Linked Data
ClinVar Variation Id:
1081390
ClinVar RCV Id:
RCV001397345
dbSNP Id:
rs2126702878
gnomAD v4:
5-119478936-A-G
MyVariant Identifiers:
chr5:g.118814631A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478936A>G , CM000667.2:g.119478936A>G | GRCh38 |
| NC_000005.9:g.118814631A>G , CM000667.1:g.118814631A>G | GRCh37 |
| NC_000005.8:g.118842530A>G | NCBI36 |
| NG_008182.1:g.31484A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.537A>G | ENSP00000426272.2:p.Ala179= | |
| ENST00000518349.6:c.113-17607A>G | ENSP00000507185.1:n.113-17607A>G | |
| ENST00000682445.1:c.*418A>G | ENSP00000508061.1:n.*418A>G | |
| ENST00000682531.1:n.638A>G | ||
| ENST00000682626.1:c.*43A>G | ENSP00000507857.1:n.*43A>G | |
| ENST00000682996.1:c.537A>G | ENSP00000507792.1:p.Ala179= | |
| ENST00000683265.1:n.630A>G | ||
| ENST00000683371.1:c.*667A>G | ENSP00000508376.1:n.*667A>G | |
| ENST00000683390.1:n.2227A>G | ||
| ENST00000683549.1:n.458A>G | ||
| ENST00000683936.1:c.*422A>G | ENSP00000507721.1:n.*422A>G | |
| ENST00000683974.1:n.619A>G | ||
| ENST00000683996.1:c.126A>G | ENSP00000507060.1:p.Ala42= | |
| ENST00000684131.1:n.376A>G | ||
| ENST00000684160.1:c.*227A>G | ENSP00000507821.1:n.*227A>G | |
| ENST00000684214.1:c.537A>G | ENSP00000508071.1:p.Ala179= | |
| ENST00000414835.7:c.612A>G | ENSP00000411960.3:p.Ala204= | |
| ENST00000510025.7:c.537A>G MANE Select | ENSP00000424940.3:p.Ala179= | |
| ENST00000643250.1:c.*409A>G | ENSP00000494737.1:n.*409A>G | |
| ENST00000644146.1:c.*115A>G | ENSP00000494808.1:n.*115A>G | |
| ENST00000645099.1:c.96A>G | ENSP00000496091.1:p.Ala32= | |
| ENST00000645702.1:c.126A>G | ENSP00000496432.1:p.Ala42= | |
| ENST00000645832.1:c.*422A>G | ENSP00000494316.1:n.*422A>G | |
| ENST00000646058.1:c.537A>G | ENSP00000493579.1:p.Ala179= | |
| ENST00000646355.1:c.*543A>G | ENSP00000493801.1:n.*543A>G | |
| ENST00000646554.1:c.*515A>G | ENSP00000494542.1:n.*515A>G | |
| ENST00000647335.1:c.*504A>G | ENSP00000495180.1:n.*504A>G | |
| ENST00000647342.1:c.*468A>G | ENSP00000494992.1:n.*468A>G | |
| ENST00000256216.10:c.537A>G | ENSP00000256216.6:p.Ala179= | |
| ENST00000414835.6:c.117A>G | ENSP00000411960.2:p.Ala39= | |
| ENST00000442060.7:c.537A>G | ENSP00000390208.3:p.Ala179= | |
| ENST00000503168.5:n.526A>G | ||
| ENST00000504811.5:c.612A>G | ENSP00000420914.1:p.Ala204= | |
| ENST00000505181.5:n.240A>G | ||
| ENST00000508788.5:n.439A>G | ||
| ENST00000509514.5:c.-348A>G | ENSP00000426272.1:n.-348A>G | |
| ENST00000510025.5:c.465A>G | ENSP00000424940.1:p.Ala155= | |
| ENST00000512644.1:n.105A>G | ||
| ENST00000513628.5:c.126A>G | ENSP00000425993.1:p.Ala42= | |
| ENST00000515235.6:n.597A>G | ||
| ENST00000515320.5:c.483A>G | ENSP00000424613.1:p.Ala161= | |
| NM_000414.3:c.537A>G | NP_000405.1:p.Ala179= | |
| NM_001199291.2:c.612A>G | NP_001186220.1:p.Ala204= | |
| NM_001199292.1:c.483A>G | NP_001186221.1:p.Ala161= | |
| NM_001292027.1:c.465A>G | NP_001278956.1:p.Ala155= | |
| NM_001292028.1:c.117A>G | NP_001278957.1:p.Ala39= | |
| NM_000414.4:c.537A>G MANE Select | NP_000405.1:p.Ala179= | |
| NM_001199291.3:c.612A>G | NP_001186220.1:p.Ala204= | |
| NM_001199292.2:c.483A>G | NP_001186221.1:p.Ala161= | |
| NM_001292027.2:c.465A>G | NP_001278956.1:p.Ala155= | |
| NM_001292028.2:c.117A>G | NP_001278957.1:p.Ala39= | |
| NM_001374497.1:c.528A>G | NP_001361426.1:p.Ala176= | |
| NM_001374498.1:c.537A>G | NP_001361427.1:p.Ala179= | |
| NM_001374499.1:c.210A>G | NP_001361428.1:p.Ala70= | |
| NM_001374500.1:c.96A>G | NP_001361429.1:p.Ala32= | |
| NM_001374501.1:c.126A>G | NP_001361430.1:p.Ala42= | |
| NM_001374502.1:c.126A>G | NP_001361431.1:p.Ala42= | |
| NM_001374503.1:c.126A>G | NP_001361432.1:p.Ala42= | |
| NR_164653.1:n.616A>G | ||
| NR_164654.1:n.804A>G |