Linked Data
ClinVar Variation Id:
522645
dbSNP Id:
rs1404020990
gnomAD v2:
22-50893829-A-C
gnomAD v4:
22-50455400-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50455400A>C , CM000684.2:g.50455400A>C | GRCh38 |
| NC_000022.10:g.50893829A>C , CM000684.1:g.50893829A>C | GRCh37 |
| NC_000022.9:g.49240695A>C | NCBI36 |
| NG_041810.1:g.24672T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4300T>G | ENSP00000252027.8:p.Leu1434Val | |
| ENST00000418590.4:c.10T>G | ENSP00000401538.2:p.Leu4Val | |
| ENST00000470434.2:n.700T>G | ||
| ENST00000684986.1:c.4381T>G | ENSP00000509117.1:p.Leu1461Val | |
| ENST00000685180.1:n.2488+5134T>G | ||
| ENST00000685390.1:n.2346T>G | ||
| ENST00000685411.1:n.47T>G | ||
| ENST00000685592.1:c.612T>G | ||
| ENST00000685809.1:c.4291T>G | ENSP00000508863.1:p.Leu1431Val | |
| ENST00000686029.1:c.465-9T>G | ||
| ENST00000686191.1:n.3578T>G | ||
| ENST00000686222.1:c.*3800T>G | ENSP00000508737.1:n.*3800T>G | |
| ENST00000686321.1:c.474T>G | ||
| ENST00000686427.1:c.*1313T>G | ENSP00000510379.1:n.*1313T>G | |
| ENST00000686758.1:n.2040T>G | ||
| ENST00000686801.1:c.4366T>G | ENSP00000509915.1:p.Leu1456Val | |
| ENST00000686826.1:n.697T>G | ||
| ENST00000687016.1:c.4279T>G | ENSP00000509074.1:p.Leu1427Val | |
| ENST00000687704.1:c.*2103T>G | ENSP00000510454.1:n.*2103T>G | |
| ENST00000688066.1:c.4378T>G | ENSP00000510782.1:p.Leu1460Val | |
| ENST00000688124.1:c.*3296T>G | ENSP00000510645.1:n.*3296T>G | |
| ENST00000688848.1:c.*3722T>G | ENSP00000509419.1:n.*3722T>G | |
| ENST00000688985.1:c.1379T>G | ENSP00000510477.1:n.1379T>G | |
| ENST00000689129.1:c.4303T>G | ENSP00000510414.1:p.Leu1435Val | |
| ENST00000689177.1:n.5650T>G | ||
| ENST00000689849.1:c.474T>G | ||
| ENST00000689981.1:c.4378T>G | ENSP00000509035.1:p.Leu1460Val | |
| ENST00000690369.1:n.4396T>G | ||
| ENST00000690590.1:n.1425T>G | ||
| ENST00000690990.1:c.4372T>G | ENSP00000510461.1:p.Leu1458Val | |
| ENST00000691233.1:c.4297T>G | ENSP00000509215.1:p.Leu1433Val | |
| ENST00000691306.1:c.476T>G | ||
| ENST00000691345.1:n.2302+816T>G | ||
| ENST00000691792.1:c.4378T>G | ENSP00000509911.1:p.Leu1460Val | |
| ENST00000691959.1:n.5097T>G | ||
| ENST00000692844.1:n.1462T>G | ||
| ENST00000692946.1:c.474T>G | ||
| ENST00000693052.1:c.4396T>G | ENSP00000509558.1:p.Leu1466Val | |
| ENST00000693289.1:n.1537T>G | ||
| ENST00000693440.1:c.4375T>G | ENSP00000509462.1:p.Leu1459Val | |
| ENST00000693499.1:n.5303T>G | ||
| ENST00000693591.1:n.3115T>G | ||
| ENST00000380817.8:c.4378T>G MANE Select | ENSP00000370196.2:p.Leu1460Val | |
| ENST00000348911.10:c.4303T>G | ENSP00000252027.7:p.Leu1435Val | |
| ENST00000380817.7:c.4378T>G | ENSP00000370196.2:p.Leu1460Val | |
| ENST00000470434.1:n.519T>G | ||
| NM_002972.3:c.4378T>G | NP_002963.2:p.Leu1460Val | |
| XM_005261931.1:c.4381T>G | XP_005261988.1:p.Leu1461Val | |
| XM_005261935.1:c.4300T>G | XP_005261992.1:p.Leu1434Val | |
| XM_011530707.1:c.4480T>G | XP_011529009.1:p.Leu1494Val | |
| XM_011530708.1:c.4432T>G | XP_011529010.1:p.Leu1478Val | |
| XM_011530709.1:c.4408T>G | XP_011529011.1:p.Leu1470Val | |
| XM_011530710.1:c.4405T>G | XP_011529012.1:p.Leu1469Val | |
| XM_011530711.1:c.4405T>G | XP_011529013.1:p.Leu1469Val | |
| XR_938344.1:n.4498T>G | ||
| NM_001365819.1:c.4303T>G | NP_001352748.1:p.Leu1435Val | |
| XM_005261935.2:c.4300T>G | XP_005261992.1:p.Leu1434Val | |
| XM_011530709.2:c.4408T>G | XP_011529011.1:p.Leu1470Val | |
| XM_011530710.2:c.4405T>G | XP_011529012.1:p.Leu1469Val | |
| XM_017028905.2:c.4330T>G | XP_016884394.1:p.Leu1444Val | |
| NM_002972.4:c.4378T>G MANE Select | NP_002963.2:p.Leu1460Val |