Linked Data
ClinVar Variation Id:
386798
dbSNP Id:
rs139369561
ExAC:
11:95578117 T / C
gnomAD v2:
11-95578117-T-C
gnomAD v3:
11-95844953-T-C
gnomAD v4:
11-95844953-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95844953T>C , CM000673.2:g.95844953T>C | GRCh38 |
| NC_000011.9:g.95578117T>C , CM000673.1:g.95578117T>C | GRCh37 |
| NC_000011.8:g.95217765T>C | NCBI36 |
| NG_008333.1:g.84255A>G , LRG_257:g.84255A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.1386A>G MANE Select | ENSP00000345752.6:p.Leu462= | |
| ENST00000393223.8:c.1170A>G | ENSP00000376915.3:p.Leu390= | |
| ENST00000444541.7:c.1170A>G | ENSP00000396020.2:p.Leu390= | |
| ENST00000470293.6:c.1170A>G | ENSP00000502515.1:p.Leu390= | |
| ENST00000481642.6:c.1170A>G | ENSP00000502505.1:p.Leu390= | |
| ENST00000484818.6:c.1170A>G | ENSP00000501963.1:p.Leu390= | |
| ENST00000495134.6:c.1170A>G | ENSP00000501894.1:p.Leu390= | |
| ENST00000497683.6:c.1170A>G | ENSP00000501753.1:p.Leu390= | |
| ENST00000674528.1:c.1170A>G | ENSP00000501567.1:p.Leu390= | |
| ENST00000674610.1:c.1170A>G | ENSP00000501688.1:p.Leu390= | |
| ENST00000674901.1:n.2524A>G | ||
| ENST00000674924.1:c.1170A>G | ENSP00000502433.1:p.Leu390= | |
| ENST00000674950.1:c.*1575A>G | ENSP00000502425.1:n.*1575A>G | |
| ENST00000674968.1:c.1170A>G | ENSP00000502567.1:p.Leu390= | |
| ENST00000674974.1:c.*1321A>G | ENSP00000502337.1:n.*1321A>G | |
| ENST00000674989.1:c.1170A>G | ENSP00000502829.1:p.Leu390= | |
| ENST00000675022.1:c.1200A>G | ENSP00000502722.1:p.Leu400= | |
| ENST00000675024.1:n.2557A>G | ||
| ENST00000675030.1:c.*4555A>G | ENSP00000502386.1:n.*4555A>G | |
| ENST00000675034.1:n.2545A>G | ||
| ENST00000675174.1:c.1170A>G | ENSP00000502032.1:p.Leu390= | |
| ENST00000675196.1:c.1170A>G | ENSP00000501867.1:p.Leu390= | |
| ENST00000675237.1:n.2549A>G | ||
| ENST00000675288.1:c.1038A>G | ENSP00000501942.1:p.Leu346= | |
| ENST00000675320.1:c.*1183A>G | ENSP00000502076.1:n.*1183A>G | |
| ENST00000675362.1:c.1170A>G | ENSP00000501989.1:p.Leu390= | |
| ENST00000675413.1:n.2347A>G | ||
| ENST00000675438.1:c.1170A>G | ENSP00000502388.1:p.Leu390= | |
| ENST00000675454.1:c.1170A>G | ENSP00000501781.1:p.Leu390= | |
| ENST00000675477.1:c.1170A>G | ENSP00000501751.1:p.Leu390= | |
| ENST00000675489.1:c.1170A>G | ENSP00000501702.1:p.Leu390= | |
| ENST00000675495.1:n.2458A>G | ||
| ENST00000675636.1:c.1170A>G | ENSP00000501850.1:p.Leu390= | |
| ENST00000675652.1:c.1170A>G | ENSP00000502694.1:p.Leu390= | |
| ENST00000675660.1:c.1038A>G | ENSP00000502824.1:p.Leu346= | |
| ENST00000675767.1:n.2438A>G | ||
| ENST00000675807.1:c.1038A>G | ENSP00000501640.1:p.Leu346= | |
| ENST00000675848.1:c.1038A>G | ENSP00000502057.1:p.Leu346= | |
| ENST00000675896.1:c.*1299A>G | ENSP00000502487.1:n.*1299A>G | |
| ENST00000675910.1:c.*1324A>G | ENSP00000502622.1:n.*1324A>G | |
| ENST00000675922.1:c.*1277A>G | ENSP00000502168.1:n.*1277A>G | |
| ENST00000675933.1:c.1170A>G | ENSP00000502575.1:p.Leu390= | |
| ENST00000675957.1:n.2448A>G | ||
| ENST00000675981.1:c.1170A>G | ENSP00000502204.1:p.Leu390= | |
| ENST00000676027.1:c.1038A>G | ENSP00000502405.1:p.Leu346= | |
| ENST00000676146.1:c.*997A>G | ENSP00000502583.1:n.*997A>G | |
| ENST00000676166.1:c.1170A>G | ENSP00000501632.1:p.Leu390= | |
| ENST00000676177.1:c.*1299A>G | ENSP00000501635.1:n.*1299A>G | |
| ENST00000676261.1:c.1170A>G | ENSP00000501675.1:p.Leu390= | |
| ENST00000676268.1:c.*704A>G | ENSP00000502444.1:n.*704A>G | |
| ENST00000676272.1:c.1170A>G | ENSP00000501601.1:p.Leu390= | |
| ENST00000676378.1:c.1170A>G | ENSP00000502736.1:p.Leu390= | |
| ENST00000676388.1:c.*1126A>G | ENSP00000501866.1:n.*1126A>G | |
| ENST00000676393.1:n.2422A>G | ||
| ENST00000676432.1:n.2588A>G | ||
| ENST00000676440.1:c.1170A>G | ENSP00000501926.1:p.Leu390= | |
| ENST00000346299.9:c.1386A>G | ENSP00000345752.5:p.Leu462= | |
| ENST00000352297.11:c.1170A>G | ENSP00000343737.7:p.Leu390= | |
| ENST00000393223.7:c.1170A>G | ENSP00000376915.3:p.Leu390= | |
| ENST00000409459.5:c.1170A>G | ENSP00000386882.1:p.Leu390= | |
| ENST00000444541.6:c.1170A>G | ENSP00000396020.1:p.Leu390= | |
| NM_001243571.1:c.1170A>G | NP_001230500.1:p.Leu390= | |
| NM_016156.5:c.1386A>G , LRG_257t1:c.1386A>G | NP_057240.3:p.Leu462= | |
| NM_201278.2:c.1170A>G | NP_958435.1:p.Leu390= | |
| NM_201281.2:c.1170A>G | NP_958438.1:p.Leu390= | |
| XM_005274374.1:c.1170A>G | XP_005274431.1:p.Leu390= | |
| XM_005274375.1:c.1170A>G | XP_005274432.1:p.Leu390= | |
| XM_006718934.1:c.1170A>G | XP_006718997.1:p.Leu390= | |
| XM_006718935.1:c.1170A>G | XP_006718998.1:p.Leu390= | |
| XM_006718936.2:c.1170A>G | XP_006718999.1:p.Leu390= | |
| XM_011543058.1:c.1245A>G | XP_011541360.1:p.Leu415= | |
| XM_011543059.1:c.1245A>G | XP_011541361.1:p.Leu415= | |
| XM_005274374.3:c.1170A>G | XP_005274431.1:p.Leu390= | |
| XM_005274375.3:c.1170A>G | XP_005274432.1:p.Leu390= | |
| NM_001243571.2:c.1170A>G | NP_001230500.1:p.Leu390= | |
| NM_016156.6:c.1386A>G MANE Select | NP_057240.3:p.Leu462= | |
| NM_201278.3:c.1170A>G | NP_958435.1:p.Leu390= | |
| NM_201281.3:c.1170A>G | NP_958438.1:p.Leu390= |