Linked Data
ClinVar Variation Id:
208562
ClinVar RCV Id:
RCV000190566
dbSNP Id:
rs797045082
gnomAD v4:
3-49418978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49418978C>T , CM000665.2:g.49418978C>T | GRCh38 |
| NC_000003.11:g.49456411C>T , CM000665.1:g.49456411C>T | GRCh37 |
| NC_000003.10:g.49431415C>T | NCBI36 |
| NG_015986.1:g.8701G>A , LRG_537:g.8701G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.870G>A MANE Select | ENSP00000273588.3:p.Trp290Ter | |
| ENST00000395338.7:c.870G>A | ENSP00000378747.2:p.Trp290Ter | |
| ENST00000399379.7:c.602G>A | ENSP00000399943.2:n.602G>A | |
| ENST00000427987.6:c.726G>A | ENSP00000403821.2:p.Trp242Ter | |
| ENST00000465925.6:n.2872G>A | ||
| ENST00000473163.2:n.3486G>A | ||
| ENST00000476127.6:n.1099G>A | ||
| ENST00000476226.6:n.1291G>A | ||
| ENST00000476828.2:n.1677G>A | ||
| ENST00000478594.6:n.1297G>A | ||
| ENST00000480957.6:n.2871G>A | ||
| ENST00000487589.6:n.783G>A | ||
| ENST00000491800.3:n.3495G>A | ||
| ENST00000493046.6:n.2749+732G>A | ||
| ENST00000538581.6:c.726G>A | ENSP00000443200.2:p.Trp242Ter | |
| ENST00000635772.1:n.1708G>A | ||
| ENST00000635798.1:n.391+282G>A | ||
| ENST00000635808.1:c.789G>A | ENSP00000489620.1:p.Trp263Ter | |
| ENST00000635889.1:n.1301G>A | ||
| ENST00000635907.1:n.591+282G>A | ||
| ENST00000635936.1:n.1138G>A | ||
| ENST00000636023.1:c.*43G>A | ENSP00000489969.1:n.*43G>A | |
| ENST00000636070.1:c.*650G>A | ENSP00000490160.1:n.*650G>A | |
| ENST00000636148.1:n.2923G>A | ||
| ENST00000636166.1:c.1107G>A | ENSP00000490106.1:p.Trp369Ter | |
| ENST00000636188.1:c.49G>A | ||
| ENST00000636199.1:c.432G>A | ENSP00000490871.1:p.Trp144Ter | |
| ENST00000636204.1:n.2152G>A | ||
| ENST00000636461.1:c.4404G>A | ||
| ENST00000636522.1:c.702G>A | ENSP00000489758.1:p.Trp234Ter | |
| ENST00000636587.1:n.956G>A | ||
| ENST00000636597.1:c.550+732G>A | ENSP00000490251.1:n.550+732G>A | |
| ENST00000636725.1:n.1586G>A | ||
| ENST00000636803.1:n.1212G>A | ||
| ENST00000636865.1:c.714G>A | ENSP00000490601.1:p.Trp238Ter | |
| ENST00000636871.1:n.1235G>A | ||
| ENST00000636978.1:n.982G>A | ||
| ENST00000636991.1:n.1315G>A | ||
| ENST00000637059.1:c.322G>A | ENSP00000490153.1:n.322G>A | |
| ENST00000637088.1:n.5682G>A | ||
| ENST00000637114.1:n.970G>A | ||
| ENST00000637268.1:n.1709G>A | ||
| ENST00000637291.1:n.1604G>A | ||
| ENST00000637442.1:n.3091G>A | ||
| ENST00000637455.1:c.681G>A | ENSP00000489628.1:p.Trp227Ter | |
| ENST00000637457.1:n.1731G>A | ||
| ENST00000637682.1:c.870G>A | ENSP00000489856.1:p.Trp290Ter | |
| ENST00000637684.1:n.1080G>A | ||
| ENST00000637821.1:c.*1180G>A | ENSP00000490482.1:n.*1180G>A | |
| ENST00000637914.1:n.2764G>A | ||
| ENST00000637982.1:n.1284G>A | ||
| ENST00000637994.1:n.1410G>A | ||
| ENST00000638014.1:c.3651G>A | ||
| ENST00000638063.1:c.789G>A | ENSP00000489760.1:p.Trp263Ter | |
| ENST00000638079.1:c.*1382G>A | ENSP00000490120.1:n.*1382G>A | |
| ENST00000638092.1:n.1390G>A | ||
| ENST00000638115.1:c.*2631G>A | ENSP00000490296.1:n.*2631G>A | |
| ENST00000273588.7:c.870G>A | ENSP00000273588.3:p.Trp290Ter | |
| ENST00000395338.6:c.870G>A | ENSP00000378747.2:p.Trp290Ter | |
| ENST00000399379.6:c.*650G>A | ENSP00000399943.1:n.*650G>A | |
| ENST00000427987.5:c.862G>A | ||
| ENST00000430521.1:c.702G>A | ENSP00000388068.1:p.Trp234Ter | |
| ENST00000458307.6:c.738G>A | ENSP00000415619.2:p.Trp246Ter | |
| ENST00000465925.5:n.2168G>A | ||
| ENST00000473163.1:n.239G>A | ||
| ENST00000476127.5:n.629G>A | ||
| ENST00000476226.5:n.935G>A | ||
| ENST00000491800.2:n.428G>A | ||
| ENST00000495436.5:n.654+282G>A | ||
| ENST00000538581.5:c.702G>A | ENSP00000443200.1:p.Trp234Ter | |
| NM_000481.3:c.870G>A , LRG_537t1:c.870G>A | NP_000472.2:p.Trp290Ter | |
| NM_001164710.1:c.738G>A | NP_001158182.1:p.Trp246Ter | |
| NM_001164711.1:c.702G>A | NP_001158183.1:p.Trp234Ter | |
| NM_001164712.1:c.870G>A | NP_001158184.1:p.Trp290Ter | |
| NR_028435.1:n.1084G>A | ||
| NM_000481.4:c.870G>A MANE Select | NP_000472.2:p.Trp290Ter | |
| NM_001164710.2:c.738G>A | NP_001158182.1:p.Trp246Ter | |
| NM_001164711.2:c.702G>A | NP_001158183.1:p.Trp234Ter | |
| NM_001164712.2:c.870G>A | NP_001158184.1:p.Trp290Ter | |
| NR_028435.2:n.879G>A |