Linked Data
ClinVar Variation Id:
476873
dbSNP Id:
rs760282236
ExAC:
11:95598761 G / A
gnomAD v2:
11-95598761-G-A
gnomAD v3:
11-95865597-G-A
gnomAD v4:
11-95865597-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95865597G>A , CM000673.2:g.95865597G>A | GRCh38 |
| NC_000011.9:g.95598761G>A , CM000673.1:g.95598761G>A | GRCh37 |
| NC_000011.8:g.95238409G>A | NCBI36 |
| NG_008333.1:g.63611C>T , LRG_257:g.63611C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.262+4C>T MANE Select | ENSP00000345752.6:n.262+4C>T | |
| ENST00000393223.8:c.46+4C>T | ENSP00000376915.3:n.46+4C>T | |
| ENST00000444541.7:c.46+4C>T | ENSP00000396020.2:n.46+4C>T | |
| ENST00000470293.6:c.46+4C>T | ENSP00000502515.1:n.46+4C>T | |
| ENST00000481642.6:c.46+4C>T | ENSP00000502505.1:n.46+4C>T | |
| ENST00000484818.6:c.46+4C>T | ENSP00000501963.1:n.46+4C>T | |
| ENST00000495134.6:c.46+4C>T | ENSP00000501894.1:n.46+4C>T | |
| ENST00000497683.6:c.46+4C>T | ENSP00000501753.1:n.46+4C>T | |
| ENST00000674528.1:c.46+4C>T | ENSP00000501567.1:n.46+4C>T | |
| ENST00000674610.1:c.46+4C>T | ENSP00000501688.1:n.46+4C>T | |
| ENST00000674901.1:n.348C>T | ||
| ENST00000674924.1:c.46+4C>T | ENSP00000502433.1:n.46+4C>T | |
| ENST00000674950.1:c.*59+4C>T | ENSP00000502425.1:n.*59+4C>T | |
| ENST00000674968.1:c.46+4C>T | ENSP00000502567.1:n.46+4C>T | |
| ENST00000674974.1:c.*197+4C>T | ENSP00000502337.1:n.*197+4C>T | |
| ENST00000674989.1:c.46+4C>T | ENSP00000502829.1:n.46+4C>T | |
| ENST00000675022.1:c.262+4C>T | ENSP00000502722.1:n.262+4C>T | |
| ENST00000675024.1:n.538+4C>T | ||
| ENST00000675030.1:c.*201C>T | ENSP00000502386.1:n.*201C>T | |
| ENST00000675034.1:n.526+4C>T | ||
| ENST00000675174.1:c.46+4C>T | ENSP00000502032.1:n.46+4C>T | |
| ENST00000675196.1:c.46+4C>T | ENSP00000501867.1:n.46+4C>T | |
| ENST00000675237.1:n.530+4C>T | ||
| ENST00000675288.1:c.-244C>T | ENSP00000501942.1:n.-244C>T | |
| ENST00000675320.1:c.*59+4C>T | ENSP00000502076.1:n.*59+4C>T | |
| ENST00000675362.1:c.46+4C>T | ENSP00000501989.1:n.46+4C>T | |
| ENST00000675413.1:n.328+4C>T | ||
| ENST00000675438.1:c.46+4C>T | ENSP00000502388.1:n.46+4C>T | |
| ENST00000675454.1:c.46+4C>T | ENSP00000501781.1:n.46+4C>T | |
| ENST00000675477.1:c.46+4C>T | ENSP00000501751.1:n.46+4C>T | |
| ENST00000675489.1:c.46+4C>T | ENSP00000501702.1:n.46+4C>T | |
| ENST00000675495.1:n.439+4C>T | ||
| ENST00000675636.1:c.46+4C>T | ENSP00000501850.1:n.46+4C>T | |
| ENST00000675652.1:c.46+4C>T | ENSP00000502694.1:n.46+4C>T | |
| ENST00000675660.1:c.-244C>T | ENSP00000502824.1:n.-244C>T | |
| ENST00000675767.1:n.413C>T | ||
| ENST00000675807.1:c.-244C>T | ENSP00000501640.1:n.-244C>T | |
| ENST00000675848.1:c.-244C>T | ENSP00000502057.1:n.-244C>T | |
| ENST00000675896.1:c.*175+4C>T | ENSP00000502487.1:n.*175+4C>T | |
| ENST00000675910.1:c.*200+4C>T | ENSP00000502622.1:n.*200+4C>T | |
| ENST00000675922.1:c.266C>T | ENSP00000502168.1:p.Pro89Leu | |
| ENST00000675933.1:c.46+4C>T | ENSP00000502575.1:n.46+4C>T | |
| ENST00000675957.1:n.429+4C>T | ||
| ENST00000675981.1:c.46+4C>T | ENSP00000502204.1:n.46+4C>T | |
| ENST00000676027.1:c.-244C>T | ENSP00000502405.1:n.-244C>T | |
| ENST00000676146.1:c.*59+4C>T | ENSP00000502583.1:n.*59+4C>T | |
| ENST00000676166.1:c.46+4C>T | ENSP00000501632.1:n.46+4C>T | |
| ENST00000676177.1:c.*175+4C>T | ENSP00000501635.1:n.*175+4C>T | |
| ENST00000676261.1:c.46+4C>T | ENSP00000501675.1:n.46+4C>T | |
| ENST00000676268.1:c.262+4C>T | ENSP00000502444.1:n.262+4C>T | |
| ENST00000676272.1:c.46+4C>T | ENSP00000501601.1:n.46+4C>T | |
| ENST00000676378.1:c.46+4C>T | ENSP00000502736.1:n.46+4C>T | |
| ENST00000676388.1:c.266C>T | ENSP00000501866.1:p.Pro89Leu | |
| ENST00000676393.1:n.403+4C>T | ||
| ENST00000676432.1:n.412C>T | ||
| ENST00000676440.1:c.46+4C>T | ENSP00000501926.1:n.46+4C>T | |
| ENST00000346299.9:c.262+4C>T | ENSP00000345752.5:n.262+4C>T | |
| ENST00000352297.11:c.46+4C>T | ENSP00000343737.7:n.46+4C>T | |
| ENST00000393223.7:c.46+4C>T | ENSP00000376915.3:n.46+4C>T | |
| ENST00000409459.5:c.46+4C>T | ENSP00000386882.1:n.46+4C>T | |
| ENST00000444541.6:c.46+4C>T | ENSP00000396020.1:n.46+4C>T | |
| ENST00000472423.5:n.259C>T | ||
| ENST00000484818.5:n.309+4C>T | ||
| ENST00000485740.5:n.431C>T | ||
| ENST00000495134.5:n.578+4C>T | ||
| ENST00000497683.5:n.482+4C>T | ||
| NM_001243571.1:c.46+4C>T | NP_001230500.1:n.46+4C>T | |
| NM_016156.5:c.262+4C>T , LRG_257t1:c.262+4C>T | NP_057240.3:n.262+4C>T | |
| NM_201278.2:c.46+4C>T | NP_958435.1:n.46+4C>T | |
| NM_201281.2:c.46+4C>T | NP_958438.1:n.46+4C>T | |
| XM_005274374.1:c.46+4C>T | XP_005274431.1:n.46+4C>T | |
| XM_005274375.1:c.46+4C>T | XP_005274432.1:n.46+4C>T | |
| XM_006718934.1:c.46+4C>T | XP_006718997.1:n.46+4C>T | |
| XM_006718935.1:c.46+4C>T | XP_006718998.1:n.46+4C>T | |
| XM_006718936.2:c.46+4C>T | XP_006718999.1:n.46+4C>T | |
| XM_011543058.1:c.121+4C>T | XP_011541360.1:n.121+4C>T | |
| XM_011543059.1:c.121+4C>T | XP_011541361.1:n.121+4C>T | |
| XM_005274374.3:c.46+4C>T | XP_005274431.1:n.46+4C>T | |
| XM_005274375.3:c.46+4C>T | XP_005274432.1:n.46+4C>T | |
| NM_001243571.2:c.46+4C>T | NP_001230500.1:n.46+4C>T | |
| NM_016156.6:c.262+4C>T MANE Select | NP_057240.3:n.262+4C>T | |
| NM_201278.3:c.46+4C>T | NP_958435.1:n.46+4C>T | |
| NM_201281.3:c.46+4C>T | NP_958438.1:n.46+4C>T |