Linked Data
ClinVar Variation Id:
138272
dbSNP Id:
rs139510268
ExAC:
11:95657026 G / A
gnomAD v2:
11-95657026-G-A
gnomAD v3:
11-95923862-G-A
gnomAD v4:
11-95923862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95923862G>A , CM000673.2:g.95923862G>A | GRCh38 |
| NC_000011.9:g.95657026G>A , CM000673.1:g.95657026G>A | GRCh37 |
| NC_000011.8:g.95296674G>A | NCBI36 |
| NG_008333.1:g.5346C>T , LRG_257:g.5346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.80+13C>T MANE Select | ENSP00000345752.6:n.80+13C>T | |
| ENST00000393223.8:c.-229+13C>T | ENSP00000376915.3:n.-229+13C>T | |
| ENST00000481642.6:c.-365+13C>T | ENSP00000502505.1:n.-365+13C>T | |
| ENST00000495134.6:c.-526C>T | ENSP00000501894.1:n.-526C>T | |
| ENST00000674924.1:c.-451C>T | ENSP00000502433.1:n.-451C>T | |
| ENST00000674950.1:c.80+13C>T | ENSP00000502425.1:n.80+13C>T | |
| ENST00000674974.1:c.80+13C>T | ENSP00000502337.1:n.80+13C>T | |
| ENST00000674989.1:c.-205+13C>T | ENSP00000502829.1:n.-205+13C>T | |
| ENST00000675022.1:c.80+13C>T | ENSP00000502722.1:n.80+13C>T | |
| ENST00000675024.1:n.233+13C>T | ||
| ENST00000675030.1:c.80+13C>T | ENSP00000502386.1:n.80+13C>T | |
| ENST00000675174.1:c.-258+13C>T | ENSP00000502032.1:n.-258+13C>T | |
| ENST00000675196.1:c.-451C>T | ENSP00000501867.1:n.-451C>T | |
| ENST00000675320.1:c.80+13C>T | ENSP00000502076.1:n.80+13C>T | |
| ENST00000675362.1:c.-302+13C>T | ENSP00000501989.1:n.-302+13C>T | |
| ENST00000675489.1:c.-404+13C>T | ENSP00000501702.1:n.-404+13C>T | |
| ENST00000675495.1:n.257+13C>T | ||
| ENST00000675652.1:c.-102+13C>T | ENSP00000502694.1:n.-102+13C>T | |
| ENST00000675767.1:n.227+13C>T | ||
| ENST00000675807.1:c.-671C>T | ENSP00000501640.1:n.-671C>T | |
| ENST00000675848.1:c.-501+13C>T | ENSP00000502057.1:n.-501+13C>T | |
| ENST00000675896.1:c.80+13C>T | ENSP00000502487.1:n.80+13C>T | |
| ENST00000675910.1:c.80+13C>T | ENSP00000502622.1:n.80+13C>T | |
| ENST00000675922.1:c.80+13C>T | ENSP00000502168.1:n.80+13C>T | |
| ENST00000675957.1:n.6C>T | ||
| ENST00000675981.1:c.-378C>T | ENSP00000502204.1:n.-378C>T | |
| ENST00000676027.1:c.-574+13C>T | ENSP00000502405.1:n.-574+13C>T | |
| ENST00000676146.1:c.80+13C>T | ENSP00000502583.1:n.80+13C>T | |
| ENST00000676166.1:c.-378C>T | ENSP00000501632.1:n.-378C>T | |
| ENST00000676177.1:c.80+13C>T | ENSP00000501635.1:n.80+13C>T | |
| ENST00000676261.1:c.-331+13C>T | ENSP00000501675.1:n.-331+13C>T | |
| ENST00000676268.1:c.80+13C>T | ENSP00000502444.1:n.80+13C>T | |
| ENST00000676272.1:c.-31+13C>T | ENSP00000501601.1:n.-31+13C>T | |
| ENST00000676388.1:c.80+13C>T | ENSP00000501866.1:n.80+13C>T | |
| ENST00000676432.1:n.226+13C>T | ||
| ENST00000676440.1:c.-380C>T | ENSP00000501926.1:n.-380C>T | |
| ENST00000346299.9:c.80+13C>T | ENSP00000345752.5:n.80+13C>T | |
| ENST00000352297.11:c.-208+13C>T | ENSP00000343737.7:n.-208+13C>T | |
| ENST00000393223.7:c.-137+13C>T | ENSP00000376915.3:n.-137+13C>T | |
| ENST00000409459.5:c.-281+13C>T | ENSP00000386882.1:n.-281+13C>T | |
| ENST00000469574.1:n.7C>T | ||
| ENST00000470011.5:n.316+13C>T | ||
| ENST00000481642.5:n.233+13C>T | ||
| ENST00000485740.5:n.4C>T | ||
| ENST00000495134.5:n.7C>T | ||
| NM_001243571.1:c.-404+13C>T | NP_001230500.1:n.-404+13C>T | |
| NM_016156.5:c.80+13C>T , LRG_257t1:c.80+13C>T | NP_057240.3:n.80+13C>T | |
| NM_201278.2:c.-331+13C>T | NP_958435.1:n.-331+13C>T | |
| NM_201281.2:c.-208+13C>T | NP_958438.1:n.-208+13C>T | |
| XM_005274374.1:c.-378C>T | XP_005274431.1:n.-378C>T | |
| XM_005274375.1:c.-260+13C>T | XP_005274432.1:n.-260+13C>T | |
| XM_006718934.1:c.-281+13C>T | XP_006718997.1:n.-281+13C>T | |
| XM_006718935.1:c.-451C>T | XP_006718998.1:n.-451C>T | |
| XM_006718936.2:c.-210+13C>T | XP_006718999.1:n.-210+13C>T | |
| XM_011543058.1:c.-290+13C>T | XP_011541360.1:n.-290+13C>T | |
| XM_005274374.3:c.-378C>T | XP_005274431.1:n.-378C>T | |
| XM_005274375.3:c.-260+13C>T | XP_005274432.1:n.-260+13C>T | |
| NM_001243571.2:c.-404+13C>T | NP_001230500.1:n.-404+13C>T | |
| NM_016156.6:c.80+13C>T MANE Select | NP_057240.3:n.80+13C>T | |
| NM_201278.3:c.-331+13C>T | NP_958435.1:n.-331+13C>T | |
| NM_201281.3:c.-208+13C>T | NP_958438.1:n.-208+13C>T |