Linked Data
ClinVar Variation Id:
130785
dbSNP Id:
rs17108378
ExAC:
10:99502897 G / A
gnomAD v2:
10-99502897-G-A
gnomAD v3:
10-97743140-G-A
gnomAD v4:
10-97743140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97743140G>A , CM000672.2:g.97743140G>A | GRCh38 |
| NC_000010.10:g.99502897G>A , CM000672.1:g.99502897G>A | GRCh37 |
| NC_000010.9:g.99492887G>A | NCBI36 |
| NG_017075.1:g.11020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684270.1:c.244G>A MANE Select | ENSP00000506975.1:p.Val82Ile | |
| ENST00000337540.11:c.173-1589G>A | ENSP00000337993.7:n.173-1589G>A | |
| ENST00000357540.8:c.197+4466G>A | ENSP00000350148.4:n.197+4466G>A | |
| ENST00000359980.5:c.244G>A | ENSP00000353069.3:p.Val82Ile | |
| ENST00000370610.7:c.-26-1589G>A | ENSP00000359642.3:n.-26-1589G>A | |
| ENST00000370613.7:c.197+4466G>A | ENSP00000359646.3:n.197+4466G>A | |
| ENST00000393677.8:c.244G>A | ENSP00000377282.3:p.Val82Ile | |
| ENST00000423811.3:c.244G>A | ENSP00000409594.2:p.Val82Ile | |
| NM_001002261.3:c.244G>A | NP_001002261.1:p.Val82Ile | |
| NM_001002262.3:c.244G>A | NP_001002262.1:p.Val82Ile | |
| NM_001174119.1:c.173-1589G>A | NP_001167590.1:n.173-1589G>A | |
| NM_001174120.1:c.197+4466G>A | NP_001167591.1:n.197+4466G>A | |
| NM_001174121.1:c.-26-1589G>A | NP_001167592.1:n.-26-1589G>A | |
| NM_001174122.1:c.197+4466G>A | NP_001167593.1:n.197+4466G>A | |
| NM_144588.6:c.244G>A | NP_653189.3:p.Val82Ile | |
| XM_005269502.2:c.244G>A | XP_005269559.1:p.Val82Ile | |
| XM_005269503.2:c.244G>A | XP_005269560.1:p.Val82Ile | |
| XM_005269504.2:c.244G>A | XP_005269561.1:p.Val82Ile | |
| XM_005269505.3:c.244G>A | XP_005269562.1:p.Val82Ile | |
| XM_005269506.2:c.244G>A | XP_005269563.1:p.Val82Ile | |
| XM_005269508.2:c.32-1589G>A | XP_005269565.1:n.32-1589G>A | |
| XM_005269509.2:c.32-1589G>A | XP_005269566.1:n.32-1589G>A | |
| XM_005269510.2:c.197+4466G>A | XP_005269567.1:n.197+4466G>A | |
| XM_005269511.2:c.197+4466G>A | XP_005269568.1:n.197+4466G>A | |
| XM_011539252.1:c.244G>A | XP_011537554.1:p.Val82Ile | |
| XM_011539253.1:c.244G>A | XP_011537555.1:p.Val82Ile | |
| XM_011539254.1:c.40G>A | XP_011537556.1:p.Val14Ile | |
| XM_011539255.1:c.40G>A | XP_011537557.1:p.Val14Ile | |
| XM_011539256.1:c.40G>A | XP_011537558.1:p.Val14Ile | |
| XR_945594.1:n.444G>A | ||
| XR_945595.1:n.444G>A | ||
| XR_945596.1:n.444G>A | ||
| XR_945597.1:n.421G>A | ||
| XM_005269502.3:c.244G>A | XP_005269559.1:p.Val82Ile | |
| XM_005269503.3:c.244G>A | XP_005269560.1:p.Val82Ile | |
| XM_005269504.3:c.244G>A | XP_005269561.1:p.Val82Ile | |
| XM_005269505.4:c.244G>A | XP_005269562.1:p.Val82Ile | |
| XM_005269506.3:c.244G>A | XP_005269563.1:p.Val82Ile | |
| XM_005269508.4:c.32-1589G>A | XP_005269565.1:n.32-1589G>A | |
| XM_005269509.3:c.32-1589G>A | XP_005269566.1:n.32-1589G>A | |
| XM_005269510.3:c.197+4466G>A | XP_005269567.1:n.197+4466G>A | |
| XM_005269511.3:c.197+4466G>A | XP_005269568.1:n.197+4466G>A | |
| XM_011539252.2:c.244G>A | XP_011537554.1:p.Val82Ile | |
| XM_011539253.2:c.244G>A | XP_011537555.1:p.Val82Ile | |
| XM_011539254.2:c.40G>A | XP_011537556.1:p.Val14Ile | |
| XM_011539255.2:c.40G>A | XP_011537557.1:p.Val14Ile | |
| XM_017015644.1:c.244G>A | XP_016871133.1:p.Val82Ile | |
| XM_017015645.1:c.244G>A | XP_016871134.1:p.Val82Ile | |
| XM_017015646.1:c.244G>A | XP_016871135.1:p.Val82Ile | |
| XM_017015647.1:c.244G>A | XP_016871136.1:p.Val82Ile | |
| XM_017015648.1:c.197+4466G>A | XP_016871137.1:n.197+4466G>A | |
| XM_017015649.1:c.197+4466G>A | XP_016871138.1:n.197+4466G>A | |
| XM_017015650.1:c.40G>A | XP_016871139.1:p.Val14Ile | |
| XM_017015651.2:c.32-1589G>A | XP_016871140.1:n.32-1589G>A | |
| XM_017015652.1:c.32-1589G>A | XP_016871141.1:n.32-1589G>A | |
| XM_017015653.2:c.32-1589G>A | XP_016871142.1:n.32-1589G>A | |
| XM_017015654.1:c.32-1589G>A | XP_016871143.1:n.32-1589G>A | |
| XM_017015655.1:c.197+4466G>A | XP_016871144.1:n.197+4466G>A | |
| XR_002956956.1:n.443G>A | ||
| XR_002956957.1:n.421G>A | ||
| XR_945594.2:n.439G>A | ||
| XR_945597.2:n.421G>A | ||
| NM_001002262.4:c.244G>A | NP_001002262.1:p.Val82Ile | |
| NM_144588.7:c.244G>A | NP_653189.3:p.Val82Ile | |
| NM_001002261.4:c.244G>A | NP_001002261.1:p.Val82Ile | |
| NM_001174119.2:c.173-1589G>A | NP_001167590.1:n.173-1589G>A | |
| NM_001174120.2:c.197+4466G>A | NP_001167591.1:n.197+4466G>A | |
| NM_001174121.2:c.-26-1589G>A | NP_001167592.1:n.-26-1589G>A | |
| NM_001174122.2:c.197+4466G>A | NP_001167593.1:n.197+4466G>A | |
| NM_001385871.1:c.244G>A | NP_001372800.1:p.Val82Ile | |
| NM_001385875.1:c.244G>A MANE Select | NP_001372804.1:p.Val82Ile | |
| NM_001385876.1:c.244G>A | NP_001372805.1:p.Val82Ile | |
| NM_001385877.1:c.244G>A | NP_001372806.1:p.Val82Ile | |
| NM_001385878.1:c.244G>A | NP_001372807.1:p.Val82Ile | |
| NM_001385879.1:c.244G>A | NP_001372808.1:p.Val82Ile | |
| NM_001385880.1:c.244G>A | NP_001372809.1:p.Val82Ile | |
| NM_001385881.1:c.244G>A | NP_001372810.1:p.Val82Ile | |
| NM_001385882.1:c.244G>A | NP_001372811.1:p.Val82Ile | |
| NM_001385883.1:c.244G>A | NP_001372812.1:p.Val82Ile | |
| NM_001385884.1:c.244G>A | NP_001372813.1:p.Val82Ile | |
| NM_001385885.1:c.173-1589G>A | NP_001372814.1:n.173-1589G>A | |
| NM_001385886.1:c.244G>A | NP_001372815.1:p.Val82Ile | |
| NM_001385887.1:c.173-1589G>A | NP_001372816.1:n.173-1589G>A | |
| NM_001385888.1:c.173-1589G>A | NP_001372817.1:n.173-1589G>A | |
| NM_001385889.1:c.244G>A | NP_001372818.1:p.Val82Ile | |
| NM_001385890.1:c.40G>A | NP_001372819.1:p.Val14Ile | |
| NM_001385891.1:c.40G>A | NP_001372820.1:p.Val14Ile | |
| NM_001385892.1:c.40G>A | NP_001372821.1:p.Val14Ile | |
| NM_001385893.1:c.40G>A | NP_001372822.1:p.Val14Ile | |
| NM_001385894.1:c.40G>A | NP_001372823.1:p.Val14Ile | |
| NM_001385895.1:c.40G>A | NP_001372824.1:p.Val14Ile | |
| NM_001385896.1:c.40G>A | NP_001372825.1:p.Val14Ile | |
| NM_001385897.1:c.40G>A | NP_001372826.1:p.Val14Ile | |
| NM_001385898.1:c.40G>A | NP_001372827.1:p.Val14Ile | |
| NM_001385899.1:c.32-1589G>A | NP_001372828.1:n.32-1589G>A | |
| NM_001385900.1:c.32-1589G>A | NP_001372829.1:n.32-1589G>A | |
| NM_001385901.1:c.197+4466G>A | NP_001372830.1:n.197+4466G>A | |
| NM_001385902.1:c.197+4466G>A | NP_001372831.1:n.197+4466G>A | |
| NM_001385903.1:c.32-1589G>A | NP_001372832.1:n.32-1589G>A | |
| NM_001385904.1:c.32-1589G>A | NP_001372833.1:n.32-1589G>A | |
| NM_001385905.1:c.32-1589G>A | NP_001372834.1:n.32-1589G>A | |
| NM_001385906.1:c.197+4466G>A | NP_001372835.1:n.197+4466G>A | |
| NM_001385908.1:c.197+4466G>A | NP_001372837.1:n.197+4466G>A | |
| NM_001385911.1:c.197+4466G>A | NP_001372840.1:n.197+4466G>A | |
| NM_001385915.1:c.-26-1589G>A | NP_001372844.1:n.-26-1589G>A | |
| NM_001385916.1:c.32-1589G>A | NP_001372845.1:n.32-1589G>A | |
| NM_001385918.1:c.197+4466G>A | NP_001372847.1:n.197+4466G>A | |
| NM_001385919.1:c.31+4466G>A | NP_001372848.1:n.31+4466G>A | |
| NR_169794.1:n.414G>A | ||
| NR_169795.1:n.397-1589G>A | ||
| NR_169796.1:n.439G>A | ||
| NR_169797.1:n.414G>A | ||
| NR_169798.1:n.414G>A | ||
| NR_169799.1:n.367+4491G>A | ||
| NR_169800.1:n.439G>A | ||
| NR_169801.1:n.439G>A | ||
| NR_169802.1:n.392+4466G>A | ||
| NR_169803.1:n.414G>A | ||
| NR_169804.1:n.443G>A | ||
| NR_169805.1:n.443G>A | ||
| NR_169806.1:n.439G>A | ||
| NR_169808.1:n.443G>A | ||
| NR_169809.1:n.393-1589G>A | ||
| NR_169810.1:n.439G>A | ||
| NR_169811.1:n.414G>A |