Linked Data
ClinVar Variation Id:
139328
dbSNP Id:
rs149214040
ExAC:
17:40477064 C / G
gnomAD v2:
17-40477064-C-G
gnomAD v3:
17-42325046-C-G
gnomAD v4:
17-42325046-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42325046C>G , CM000679.2:g.42325046C>G | GRCh38 |
| NC_000017.10:g.40477064C>G , CM000679.1:g.40477064C>G | GRCh37 |
| NC_000017.9:g.37730590C>G | NCBI36 |
| NG_007370.1:g.68450G>C , LRG_112:g.68450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713583.1:c.1381G>C | ENSP00000518875.1:p.Val461Leu | |
| ENST00000264657.10:c.1381G>C MANE Select | ENSP00000264657.4:p.Val461Leu | |
| ENST00000676636.1:c.1381G>C | ENSP00000504255.1:p.Val461Leu | |
| ENST00000677002.1:c.1381G>C | ENSP00000503742.1:p.Val461Leu | |
| ENST00000677030.1:c.1381G>C | ENSP00000503662.1:p.Val461Leu | |
| ENST00000677152.1:c.1381G>C | ENSP00000502874.1:p.Val461Leu | |
| ENST00000677270.1:n.616G>C | ||
| ENST00000677271.1:c.1365+1070G>C | ENSP00000503912.1:n.1365+1070G>C | |
| ENST00000677308.1:c.1381G>C | ENSP00000503059.1:p.Val461Leu | |
| ENST00000677421.1:c.1477G>C | ENSP00000503599.1:p.Val493Leu | |
| ENST00000677442.1:c.1381G>C | ENSP00000504350.1:p.Val461Leu | |
| ENST00000677479.1:c.1381G>C | ENSP00000503559.1:p.Val461Leu | |
| ENST00000677603.1:c.1381G>C | ENSP00000504324.1:p.Val461Leu | |
| ENST00000677723.1:c.1381G>C | ENSP00000503574.1:p.Val461Leu | |
| ENST00000677763.1:n.1581G>C | ||
| ENST00000677820.1:c.1381G>C | ENSP00000504715.1:p.Val461Leu | |
| ENST00000678043.1:c.1381G>C | ENSP00000503872.1:p.Val461Leu | |
| ENST00000678044.1:c.1381G>C | ENSP00000503102.1:p.Val461Leu | |
| ENST00000678048.1:c.1297G>C | ENSP00000503799.1:p.Val433Leu | |
| ENST00000678445.1:c.1381G>C | ENSP00000503105.1:p.Val461Leu | |
| ENST00000678535.1:c.1381G>C | ENSP00000504081.1:p.Val461Leu | |
| ENST00000678572.1:c.1396G>C | ENSP00000504182.1:p.Val466Leu | |
| ENST00000678659.1:n.1600G>C | ||
| ENST00000678674.1:c.1285G>C | ENSP00000504062.1:p.Val429Leu | |
| ENST00000678764.1:n.1580G>C | ||
| ENST00000678792.1:c.1396G>C | ENSP00000504435.1:p.Val466Leu | |
| ENST00000678827.1:c.1381G>C | ENSP00000503634.1:p.Val461Leu | |
| ENST00000678905.1:c.1396G>C | ENSP00000503333.1:p.Val466Leu | |
| ENST00000678906.1:c.1381G>C | ENSP00000504184.1:p.Val461Leu | |
| ENST00000678913.1:c.1396G>C | ENSP00000504609.1:p.Val466Leu | |
| ENST00000678960.1:c.1381G>C | ENSP00000503181.1:p.Val461Leu | |
| ENST00000679014.1:c.1381G>C | ENSP00000503237.1:p.Val461Leu | |
| ENST00000679166.1:c.1297G>C | ENSP00000503308.1:p.Val433Leu | |
| ENST00000679185.1:c.1381G>C | ENSP00000503332.1:p.Val461Leu | |
| ENST00000679231.1:n.1406G>C | ||
| ENST00000264657.9:c.1381G>C | ENSP00000264657.4:p.Val461Leu | |
| ENST00000389272.7:c.1087G>C | ENSP00000373923.3:p.Val363Leu | |
| ENST00000404395.3:c.1381G>C | ENSP00000384943.3:p.Val461Leu | |
| ENST00000471989.5:n.16G>C | ||
| ENST00000498330.1:n.112G>C | ||
| ENST00000585517.5:c.1381G>C | ENSP00000467000.1:p.Val461Leu | |
| ENST00000588969.5:c.1381G>C | ENSP00000467985.1:p.Val461Leu | |
| NM_003150.3:c.1381G>C | NP_003141.2:p.Val461Leu | |
| NM_139276.2:c.1381G>C , LRG_112t1:c.1381G>C | NP_644805.1:p.Val461Leu | |
| NM_213662.1:c.1381G>C | NP_998827.1:p.Val461Leu | |
| XM_005257616.2:c.1381G>C | XP_005257673.2:p.Val461Leu | |
| XM_005257617.2:c.1381G>C | XP_005257674.2:p.Val461Leu | |
| XM_011525145.1:c.1381G>C | XP_011523447.1:p.Val461Leu | |
| XM_011525146.1:c.1381G>C | XP_011523448.1:p.Val461Leu | |
| XM_005257616.4:c.1381G>C | XP_005257673.2:p.Val461Leu | |
| XM_005257617.3:c.1381G>C | XP_005257674.2:p.Val461Leu | |
| XM_011525145.3:c.1381G>C | XP_011523447.1:p.Val461Leu | |
| XM_011525146.3:c.1381G>C | XP_011523448.1:p.Val461Leu | |
| XM_017024972.1:c.1381G>C | XP_016880461.1:p.Val461Leu | |
| XM_017024973.2:c.1381G>C | XP_016880462.1:p.Val461Leu | |
| XM_017024974.1:c.1381G>C | XP_016880463.1:p.Val461Leu | |
| XM_017024975.1:c.1381G>C | XP_016880464.1:p.Val461Leu | |
| XM_017024976.1:c.1381G>C | XP_016880465.1:p.Val461Leu | |
| XM_024450896.1:c.1477G>C | XP_024306664.1:p.Val493Leu | |
| NM_001369512.1:c.1381G>C | NP_001356441.1:p.Val461Leu | |
| NM_001369513.1:c.1381G>C | NP_001356442.1:p.Val461Leu | |
| NM_001369514.1:c.1381G>C | NP_001356443.1:p.Val461Leu | |
| NM_001369516.1:c.1381G>C | NP_001356445.1:p.Val461Leu | |
| NM_001369517.1:c.1381G>C | NP_001356446.1:p.Val461Leu | |
| NM_001369518.1:c.1381G>C | NP_001356447.1:p.Val461Leu | |
| NM_001369519.1:c.1381G>C | NP_001356448.1:p.Val461Leu | |
| NM_001369520.1:c.1381G>C | NP_001356449.1:p.Val461Leu | |
| NM_003150.4:c.1381G>C | NP_003141.2:p.Val461Leu | |
| NM_213662.2:c.1381G>C | NP_998827.1:p.Val461Leu | |
| NM_001384984.1:c.1297G>C | NP_001371913.1:p.Val433Leu | |
| NM_001384985.1:c.1303G>C | NP_001371914.1:p.Val435Leu | |
| NM_001384986.1:c.1396G>C | NP_001371915.1:p.Val466Leu | |
| NM_001384987.1:c.1381G>C | NP_001371916.1:p.Val461Leu | |
| NM_001384988.1:c.1381G>C | NP_001371917.1:p.Val461Leu | |
| NM_001384989.1:c.1285G>C | NP_001371918.1:p.Val429Leu | |
| NM_001384990.1:c.1396G>C | NP_001371919.1:p.Val466Leu | |
| NM_001384991.1:c.1381G>C | NP_001371920.1:p.Val461Leu | |
| NM_001384992.1:c.1321G>C | NP_001371921.1:p.Val441Leu | |
| NM_001384993.1:c.1381G>C | NP_001371922.1:p.Val461Leu | |
| NM_139276.3:c.1381G>C MANE Select | NP_644805.1:p.Val461Leu |