Linked Data
ClinVar Variation Id:
1576924
ClinVar RCV Id:
RCV002078614
dbSNP Id:
rs1258455812
gnomAD v3:
16-2070592-G-A
gnomAD v4:
16-2070592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2070592G>A , CM000678.2:g.2070592G>A | GRCh38 |
| NC_000016.9:g.2120593G>A , CM000678.1:g.2120593G>A | GRCh37 |
| NC_000016.8:g.2060594G>A | NCBI36 |
| NG_005895.1:g.26287G>A , LRG_487:g.26287G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*386+14G>A | ENSP00000455997.2:n.*386+14G>A | |
| ENST00000642206.2:c.1884+14G>A | ENSP00000495146.2:n.1884+14G>A | |
| ENST00000642365.2:c.1839+14G>A | ENSP00000495459.2:n.1839+14G>A | |
| ENST00000644417.2:c.*1276+14G>A | ENSP00000493912.2:n.*1276+14G>A | |
| ENST00000646464.2:c.*1444+14G>A | ENSP00000496610.2:n.*1444+14G>A | |
| ENST00000219476.9:c.1839+14G>A MANE Select | ENSP00000219476.3:n.1839+14G>A | |
| ENST00000350773.9:c.1839+14G>A | ENSP00000344383.4:n.1839+14G>A | |
| ENST00000401874.7:c.1839+14G>A | ENSP00000384468.2:n.1839+14G>A | |
| ENST00000568454.6:c.1872+14G>A | ENSP00000454487.1:n.1872+14G>A | |
| ENST00000642365.1:c.496+14G>A | ||
| ENST00000642561.1:c.1839+14G>A | ENSP00000495099.1:n.1839+14G>A | |
| ENST00000642797.1:c.1839+14G>A | ENSP00000493846.1:n.1839+14G>A | |
| ENST00000642936.1:c.1839+14G>A | ENSP00000494514.1:n.1839+14G>A | |
| ENST00000643088.1:c.1839+14G>A | ENSP00000494747.1:n.1839+14G>A | |
| ENST00000643298.1:c.*1341+14G>A | ENSP00000494393.1:n.*1341+14G>A | |
| ENST00000643946.1:c.1839+14G>A | ENSP00000495927.1:n.1839+14G>A | |
| ENST00000644043.1:c.1839+14G>A | ENSP00000496262.1:n.1839+14G>A | |
| ENST00000644135.1:c.*339+14G>A | ENSP00000495644.1:n.*339+14G>A | |
| ENST00000644329.1:c.1839+14G>A | ENSP00000496611.1:n.1839+14G>A | |
| ENST00000644335.1:c.1839+14G>A | ENSP00000496317.1:n.1839+14G>A | |
| ENST00000644399.1:c.1832+14G>A | ||
| ENST00000644847.1:n.831+14G>A | ||
| ENST00000645552.1:n.119+14G>A | ||
| ENST00000646388.1:c.1839+14G>A | ENSP00000495921.1:n.1839+14G>A | |
| ENST00000646634.1:n.852+14G>A | ||
| ENST00000219476.7:c.1839+14G>A | ENSP00000219476.3:n.1839+14G>A | |
| ENST00000350773.8:c.1839+14G>A | ENSP00000344383.4:n.1839+14G>A | |
| ENST00000382538.10:c.1692+14G>A | ENSP00000371978.6:n.1692+14G>A | |
| ENST00000401874.6:c.1839+14G>A | ENSP00000384468.2:n.1839+14G>A | |
| ENST00000439117.6:c.*1138+14G>A | ENSP00000406980.2:n.*1138+14G>A | |
| ENST00000439673.6:c.1728+14G>A | ENSP00000399232.2:n.1728+14G>A | |
| ENST00000488675.5:n.346+14G>A | ||
| ENST00000562474.1:n.564+14G>A | ||
| ENST00000568454.5:c.1872+14G>A | ENSP00000454487.1:n.1872+14G>A | |
| ENST00000568566.5:c.479+14G>A | ENSP00000455997.1:n.479+14G>A | |
| NM_000548.3:c.1839+14G>A , LRG_487t1:c.1839+14G>A | NP_000539.2:n.1839+14G>A | |
| NM_001077183.1:c.1839+14G>A | NP_001070651.1:n.1839+14G>A | |
| NM_001114382.1:c.1839+14G>A | NP_001107854.1:n.1839+14G>A | |
| XM_005255529.3:c.1839+14G>A | XP_005255586.2:n.1839+14G>A | |
| XM_005255531.3:c.1839+14G>A | XP_005255588.2:n.1839+14G>A | |
| XM_011522636.1:c.1839+14G>A | XP_011520938.1:n.1839+14G>A | |
| XM_011522637.1:c.1839+14G>A | XP_011520939.1:n.1839+14G>A | |
| XM_011522638.1:c.1728+14G>A | XP_011520940.1:n.1728+14G>A | |
| XM_011522639.1:c.1839+14G>A | XP_011520941.1:n.1839+14G>A | |
| XM_011522640.1:c.1839+14G>A | XP_011520942.1:n.1839+14G>A | |
| XM_011522641.1:c.1728+14G>A | XP_011520943.1:n.1728+14G>A | |
| NM_000548.4:c.1839+14G>A | NP_000539.2:n.1839+14G>A | |
| NM_001077183.2:c.1839+14G>A | NP_001070651.1:n.1839+14G>A | |
| NM_001114382.2:c.1839+14G>A | NP_001107854.1:n.1839+14G>A | |
| NM_001318827.1:c.1728+14G>A | NP_001305756.1:n.1728+14G>A | |
| NM_001318829.1:c.1692+14G>A | NP_001305758.1:n.1692+14G>A | |
| NM_001318831.1:c.1239+14G>A | NP_001305760.1:n.1239+14G>A | |
| NM_001318832.1:c.1872+14G>A | NP_001305761.1:n.1872+14G>A | |
| NM_001363528.1:c.1839+14G>A | NP_001350457.1:n.1839+14G>A | |
| NM_021055.2:c.1839+14G>A | NP_066399.2:n.1839+14G>A | |
| XM_005255531.4:c.1839+14G>A | XP_005255588.2:n.1839+14G>A | |
| XM_011522636.2:c.1839+14G>A | XP_011520938.1:n.1839+14G>A | |
| XM_011522637.2:c.1839+14G>A | XP_011520939.1:n.1839+14G>A | |
| XM_011522638.2:c.2001+14G>A | XP_011520940.2:n.2001+14G>A | |
| XM_011522639.2:c.1839+14G>A | XP_011520941.1:n.1839+14G>A | |
| XM_011522640.2:c.1839+14G>A | XP_011520942.1:n.1839+14G>A | |
| XM_017023615.1:c.1839+14G>A | XP_016879104.1:n.1839+14G>A | |
| XM_017023616.1:c.1839+14G>A | XP_016879105.1:n.1839+14G>A | |
| XM_017023617.1:c.2001+14G>A | XP_016879106.1:n.2001+14G>A | |
| XM_017023618.1:c.495+14G>A | XP_016879107.1:n.495+14G>A | |
| XM_024450413.1:c.1839+14G>A | XP_024306181.1:n.1839+14G>A | |
| NM_000548.5:c.1839+14G>A MANE Select | NP_000539.2:n.1839+14G>A | |
| NM_001370404.1:c.1839+14G>A | NP_001357333.1:n.1839+14G>A | |
| NM_001370405.1:c.1839+14G>A | NP_001357334.1:n.1839+14G>A | |
| NM_001077183.3:c.1839+14G>A | NP_001070651.1:n.1839+14G>A | |
| NM_001114382.3:c.1839+14G>A | NP_001107854.1:n.1839+14G>A | |
| NM_001318827.2:c.1728+14G>A | NP_001305756.1:n.1728+14G>A | |
| NM_001318829.2:c.1692+14G>A | NP_001305758.1:n.1692+14G>A | |
| NM_001318831.2:c.1239+14G>A | NP_001305760.1:n.1239+14G>A | |
| NM_001318832.2:c.1872+14G>A | NP_001305761.1:n.1872+14G>A | |
| NM_001363528.2:c.1839+14G>A | NP_001350457.1:n.1839+14G>A | |
| NM_021055.3:c.1839+14G>A | NP_066399.2:n.1839+14G>A |