Linked Data
ClinVar Variation Id:
226666
dbSNP Id:
rs184492796
ExAC:
5:118860973 T / A
gnomAD v2:
5-118860973-T-A
gnomAD v3:
5-119525278-T-A
gnomAD v4:
5-119525278-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525278T>A , CM000667.2:g.119525278T>A | GRCh38 |
| NC_000005.9:g.118860973T>A , CM000667.1:g.118860973T>A | GRCh37 |
| NC_000005.8:g.118888872T>A | NCBI36 |
| NG_008182.1:g.77826T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1497T>A | ENSP00000426272.2:p.Ser499Arg | |
| ENST00000518349.6:c.810T>A | ENSP00000507185.1:p.Ser270Arg | |
| ENST00000520244.6:n.3304T>A | ||
| ENST00000682445.1:c.*1447T>A | ENSP00000508061.1:n.*1447T>A | |
| ENST00000682531.1:n.3458T>A | ||
| ENST00000682626.1:c.*1072T>A | ENSP00000507857.1:n.*1072T>A | |
| ENST00000682996.1:c.1494T>A | ENSP00000507792.1:p.Ser498Arg | |
| ENST00000683265.1:n.3352T>A | ||
| ENST00000683335.1:n.2968T>A | ||
| ENST00000683371.1:c.*1696T>A | ENSP00000508376.1:n.*1696T>A | |
| ENST00000683372.1:n.3576T>A | ||
| ENST00000683390.1:n.3256T>A | ||
| ENST00000683476.1:n.408T>A | ||
| ENST00000683549.1:n.3180T>A | ||
| ENST00000683936.1:c.*3144T>A | ENSP00000507721.1:n.*3144T>A | |
| ENST00000683974.1:n.3295T>A | ||
| ENST00000683996.1:c.*776T>A | ENSP00000507060.1:n.*776T>A | |
| ENST00000684131.1:n.3098T>A | ||
| ENST00000684160.1:c.*1256T>A | ENSP00000507821.1:n.*1256T>A | |
| ENST00000684214.1:c.1566T>A | ENSP00000508071.1:p.Ser522Arg | |
| ENST00000414835.7:c.1641T>A | ENSP00000411960.3:p.Ser547Arg | |
| ENST00000510025.7:c.1566T>A MANE Select | ENSP00000424940.3:p.Ser522Arg | |
| ENST00000643250.1:c.*1438T>A | ENSP00000494737.1:n.*1438T>A | |
| ENST00000644146.1:c.*2837T>A | ENSP00000494808.1:n.*2837T>A | |
| ENST00000645099.1:c.1125T>A | ENSP00000496091.1:p.Ser375Arg | |
| ENST00000645702.1:c.*969T>A | ENSP00000496432.1:n.*969T>A | |
| ENST00000645832.1:c.*1451T>A | ENSP00000494316.1:n.*1451T>A | |
| ENST00000646058.1:c.1566T>A | ENSP00000493579.1:p.Ser522Arg | |
| ENST00000646355.1:c.*1572T>A | ENSP00000493801.1:n.*1572T>A | |
| ENST00000646554.1:c.*1544T>A | ENSP00000494542.1:n.*1544T>A | |
| ENST00000647335.1:c.*1533T>A | ENSP00000495180.1:n.*1533T>A | |
| ENST00000647342.1:c.*1497T>A | ENSP00000494992.1:n.*1497T>A | |
| ENST00000256216.10:c.1566T>A | ENSP00000256216.6:p.Ser522Arg | |
| ENST00000414835.6:c.1146T>A | ENSP00000411960.2:p.Ser382Arg | |
| ENST00000442060.7:c.*128T>A | ENSP00000390208.3:n.*128T>A | |
| ENST00000504811.5:c.1641T>A | ENSP00000420914.1:p.Ser547Arg | |
| ENST00000509514.5:c.780T>A | ENSP00000426272.1:p.Ser260Arg | |
| ENST00000509951.5:n.21T>A | ||
| ENST00000510025.5:c.1494T>A | ENSP00000424940.1:p.Ser498Arg | |
| ENST00000513628.5:c.1155T>A | ENSP00000425993.1:p.Ser385Arg | |
| ENST00000515235.6:n.3319T>A | ||
| ENST00000515320.5:c.1512T>A | ENSP00000424613.1:p.Ser504Arg | |
| ENST00000518349.5:n.700T>A | ||
| ENST00000520244.5:n.349T>A | ||
| ENST00000522415.5:n.233T>A | ||
| NM_000414.3:c.1566T>A | NP_000405.1:p.Ser522Arg | |
| NM_001199291.2:c.1641T>A | NP_001186220.1:p.Ser547Arg | |
| NM_001199292.1:c.1512T>A | NP_001186221.1:p.Ser504Arg | |
| NM_001292027.1:c.1494T>A | NP_001278956.1:p.Ser498Arg | |
| NM_001292028.1:c.1146T>A | NP_001278957.1:p.Ser382Arg | |
| NM_000414.4:c.1566T>A MANE Select | NP_000405.1:p.Ser522Arg | |
| NM_001199291.3:c.1641T>A | NP_001186220.1:p.Ser547Arg | |
| NM_001199292.2:c.1512T>A | NP_001186221.1:p.Ser504Arg | |
| NM_001292027.2:c.1494T>A | NP_001278956.1:p.Ser498Arg | |
| NM_001292028.2:c.1146T>A | NP_001278957.1:p.Ser382Arg | |
| NM_001374497.1:c.1557T>A | NP_001361426.1:p.Ser519Arg | |
| NM_001374498.1:c.1494T>A | NP_001361427.1:p.Ser498Arg | |
| NM_001374499.1:c.1239T>A | NP_001361428.1:p.Ser413Arg | |
| NM_001374500.1:c.1125T>A | NP_001361429.1:p.Ser375Arg | |
| NM_001374501.1:c.1155T>A | NP_001361430.1:p.Ser385Arg | |
| NM_001374502.1:c.1155T>A | NP_001361431.1:p.Ser385Arg | |
| NM_001374503.1:c.1155T>A | NP_001361432.1:p.Ser385Arg | |
| NR_164653.1:n.1663T>A | ||
| NR_164654.1:n.1931T>A |