Linked Data
ClinVar Variation Id:
543327
ClinVar RCV Id:
RCV000654064
dbSNP Id:
rs1555061026
gnomAD v4:
11-95850598-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95850598A>C , CM000673.2:g.95850598A>C | GRCh38 |
| NC_000011.9:g.95583762A>C , CM000673.1:g.95583762A>C | GRCh37 |
| NC_000011.8:g.95223410A>C | NCBI36 |
| NG_008333.1:g.78610T>G , LRG_257:g.78610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.804+2T>G MANE Select | ENSP00000345752.6:n.804+2T>G | |
| ENST00000393223.8:c.588+2T>G | ENSP00000376915.3:n.588+2T>G | |
| ENST00000444541.7:c.588+2T>G | ENSP00000396020.2:n.588+2T>G | |
| ENST00000470293.6:c.588+2T>G | ENSP00000502515.1:n.588+2T>G | |
| ENST00000481642.6:c.588+2T>G | ENSP00000502505.1:n.588+2T>G | |
| ENST00000484818.6:c.588+2T>G | ENSP00000501963.1:n.588+2T>G | |
| ENST00000495134.6:c.588+2T>G | ENSP00000501894.1:n.588+2T>G | |
| ENST00000497683.6:c.588+2T>G | ENSP00000501753.1:n.588+2T>G | |
| ENST00000674528.1:c.588+2T>G | ENSP00000501567.1:n.588+2T>G | |
| ENST00000674610.1:c.588+2T>G | ENSP00000501688.1:n.588+2T>G | |
| ENST00000674901.1:n.1942+2T>G | ||
| ENST00000674924.1:c.588+2T>G | ENSP00000502433.1:n.588+2T>G | |
| ENST00000674950.1:c.*603T>G | ENSP00000502425.1:n.*603T>G | |
| ENST00000674968.1:c.588+2T>G | ENSP00000502567.1:n.588+2T>G | |
| ENST00000674974.1:c.*739+2T>G | ENSP00000502337.1:n.*739+2T>G | |
| ENST00000674989.1:c.588+2T>G | ENSP00000502829.1:n.588+2T>G | |
| ENST00000675022.1:c.618+2T>G | ENSP00000502722.1:n.618+2T>G | |
| ENST00000675024.1:n.1975+2T>G | ||
| ENST00000675030.1:c.*3973+2T>G | ENSP00000502386.1:n.*3973+2T>G | |
| ENST00000675034.1:n.1963+2T>G | ||
| ENST00000675174.1:c.588+2T>G | ENSP00000502032.1:n.588+2T>G | |
| ENST00000675196.1:c.588+2T>G | ENSP00000501867.1:n.588+2T>G | |
| ENST00000675237.1:n.1967+2T>G | ||
| ENST00000675288.1:c.456+2T>G | ENSP00000501942.1:n.456+2T>G | |
| ENST00000675320.1:c.*601+2T>G | ENSP00000502076.1:n.*601+2T>G | |
| ENST00000675362.1:c.588+2T>G | ENSP00000501989.1:n.588+2T>G | |
| ENST00000675413.1:n.1765+2T>G | ||
| ENST00000675438.1:c.588+2T>G | ENSP00000502388.1:n.588+2T>G | |
| ENST00000675454.1:c.588+2T>G | ENSP00000501781.1:n.588+2T>G | |
| ENST00000675477.1:c.588+2T>G | ENSP00000501751.1:n.588+2T>G | |
| ENST00000675489.1:c.588+2T>G | ENSP00000501702.1:n.588+2T>G | |
| ENST00000675495.1:n.1876+2T>G | ||
| ENST00000675636.1:c.588+2T>G | ENSP00000501850.1:n.588+2T>G | |
| ENST00000675652.1:c.588+2T>G | ENSP00000502694.1:n.588+2T>G | |
| ENST00000675660.1:c.456+2T>G | ENSP00000502824.1:n.456+2T>G | |
| ENST00000675767.1:n.1856+2T>G | ||
| ENST00000675807.1:c.456+2T>G | ENSP00000501640.1:n.456+2T>G | |
| ENST00000675848.1:c.456+2T>G | ENSP00000502057.1:n.456+2T>G | |
| ENST00000675896.1:c.*717+2T>G | ENSP00000502487.1:n.*717+2T>G | |
| ENST00000675910.1:c.*742+2T>G | ENSP00000502622.1:n.*742+2T>G | |
| ENST00000675922.1:c.*695+2T>G | ENSP00000502168.1:n.*695+2T>G | |
| ENST00000675933.1:c.588+2T>G | ENSP00000502575.1:n.588+2T>G | |
| ENST00000675957.1:n.1866+2T>G | ||
| ENST00000675981.1:c.588+2T>G | ENSP00000502204.1:n.588+2T>G | |
| ENST00000676027.1:c.456+2T>G | ENSP00000502405.1:n.456+2T>G | |
| ENST00000676146.1:c.*415+2T>G | ENSP00000502583.1:n.*415+2T>G | |
| ENST00000676166.1:c.588+2T>G | ENSP00000501632.1:n.588+2T>G | |
| ENST00000676177.1:c.*717+2T>G | ENSP00000501635.1:n.*717+2T>G | |
| ENST00000676261.1:c.588+2T>G | ENSP00000501675.1:n.588+2T>G | |
| ENST00000676268.1:c.*122+2T>G | ENSP00000502444.1:n.*122+2T>G | |
| ENST00000676272.1:c.588+2T>G | ENSP00000501601.1:n.588+2T>G | |
| ENST00000676378.1:c.588+2T>G | ENSP00000502736.1:n.588+2T>G | |
| ENST00000676388.1:c.*544+2T>G | ENSP00000501866.1:n.*544+2T>G | |
| ENST00000676393.1:n.1840+2T>G | ||
| ENST00000676432.1:n.2006+2T>G | ||
| ENST00000676440.1:c.588+2T>G | ENSP00000501926.1:n.588+2T>G | |
| ENST00000346299.9:c.804+2T>G | ENSP00000345752.5:n.804+2T>G | |
| ENST00000352297.11:c.588+2T>G | ENSP00000343737.7:n.588+2T>G | |
| ENST00000393223.7:c.588+2T>G | ENSP00000376915.3:n.588+2T>G | |
| ENST00000409459.5:c.588+2T>G | ENSP00000386882.1:n.588+2T>G | |
| ENST00000444541.6:c.588+2T>G | ENSP00000396020.1:n.588+2T>G | |
| NM_001243571.1:c.588+2T>G | NP_001230500.1:n.588+2T>G | |
| NM_016156.5:c.804+2T>G , LRG_257t1:c.804+2T>G | NP_057240.3:n.804+2T>G | |
| NM_201278.2:c.588+2T>G | NP_958435.1:n.588+2T>G | |
| NM_201281.2:c.588+2T>G | NP_958438.1:n.588+2T>G | |
| XM_005274374.1:c.588+2T>G | XP_005274431.1:n.588+2T>G | |
| XM_005274375.1:c.588+2T>G | XP_005274432.1:n.588+2T>G | |
| XM_006718934.1:c.588+2T>G | XP_006718997.1:n.588+2T>G | |
| XM_006718935.1:c.588+2T>G | XP_006718998.1:n.588+2T>G | |
| XM_006718936.2:c.588+2T>G | XP_006718999.1:n.588+2T>G | |
| XM_011543058.1:c.663+2T>G | XP_011541360.1:n.663+2T>G | |
| XM_011543059.1:c.663+2T>G | XP_011541361.1:n.663+2T>G | |
| XM_005274374.3:c.588+2T>G | XP_005274431.1:n.588+2T>G | |
| XM_005274375.3:c.588+2T>G | XP_005274432.1:n.588+2T>G | |
| NM_001243571.2:c.588+2T>G | NP_001230500.1:n.588+2T>G | |
| NM_016156.6:c.804+2T>G MANE Select | NP_057240.3:n.804+2T>G | |
| NM_201278.3:c.588+2T>G | NP_958435.1:n.588+2T>G | |
| NM_201281.3:c.588+2T>G | NP_958438.1:n.588+2T>G |