Linked Data
ClinVar Variation Id:
372963
dbSNP Id:
rs1057518103
gnomAD v2:
16-2138446-G-C
gnomAD v3:
16-2088445-G-C
gnomAD v4:
16-2088445-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088445G>C , CM000678.2:g.2088445G>C | GRCh38 |
| NC_000016.9:g.2138446G>C , CM000678.1:g.2138446G>C | GRCh37 |
| NC_000016.8:g.2078447G>C | NCBI36 |
| NG_005895.1:g.44140G>C , LRG_487:g.44140G>C | |
| NG_008617.1:g.54776C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3609-1G>C | ENSP00000455997.2:n.*3609-1G>C | |
| ENST00000642206.2:c.5107-1G>C | ENSP00000495146.2:n.5107-1G>C | |
| ENST00000642365.2:c.5257-1G>C | ENSP00000495459.2:n.5257-1G>C | |
| ENST00000644417.2:c.*5773-1G>C | ENSP00000493912.2:n.*5773-1G>C | |
| ENST00000646464.2:c.*8009-1G>C | ENSP00000496610.2:n.*8009-1G>C | |
| ENST00000219476.9:c.5260-1G>C MANE Select | ENSP00000219476.3:n.5260-1G>C | |
| ENST00000350773.9:c.5191-1G>C | ENSP00000344383.4:n.5191-1G>C | |
| ENST00000401874.7:c.5059-1G>C | ENSP00000384468.2:n.5059-1G>C | |
| ENST00000568454.6:c.5092-1G>C | ENSP00000454487.1:n.5092-1G>C | |
| ENST00000569110.2:c.1483-1G>C | ||
| ENST00000569930.2:n.3142-1G>C | ||
| ENST00000642365.1:c.3914-1G>C | ||
| ENST00000642561.1:c.5119-1G>C | ENSP00000495099.1:n.5119-1G>C | |
| ENST00000642791.1:n.857-1G>C | ||
| ENST00000642797.1:c.5062-1G>C | ENSP00000493846.1:n.5062-1G>C | |
| ENST00000642936.1:c.5128-1G>C | ENSP00000494514.1:n.5128-1G>C | |
| ENST00000643088.1:c.5053-1G>C | ENSP00000494747.1:n.5053-1G>C | |
| ENST00000643426.1:n.2908-1G>C | ||
| ENST00000643946.1:c.5185-1G>C | ENSP00000495927.1:n.5185-1G>C | |
| ENST00000644043.1:c.5131-1G>C | ENSP00000496262.1:n.5131-1G>C | |
| ENST00000644329.1:c.5146-1G>C | ENSP00000496611.1:n.5146-1G>C | |
| ENST00000644335.1:c.5056-1G>C | ENSP00000496317.1:n.5056-1G>C | |
| ENST00000644399.1:c.5181-1G>C | ||
| ENST00000645024.1:n.3344-1G>C | ||
| ENST00000646388.1:c.5254-1G>C | ENSP00000495921.1:n.5254-1G>C | |
| ENST00000646634.1:n.4075-1G>C | ||
| ENST00000646674.1:n.2512-1G>C | ||
| ENST00000647042.1:n.2483-1G>C | ||
| ENST00000647180.1:n.2373-1G>C | ||
| ENST00000219476.7:c.5260-1G>C | ENSP00000219476.3:n.5260-1G>C | |
| ENST00000350773.8:c.5191-1G>C | ENSP00000344383.4:n.5191-1G>C | |
| ENST00000382538.10:c.4915-1G>C | ENSP00000371978.6:n.4915-1G>C | |
| ENST00000401874.6:c.5059-1G>C | ENSP00000384468.2:n.5059-1G>C | |
| ENST00000439117.6:c.*4427-1G>C | ENSP00000406980.2:n.*4427-1G>C | |
| ENST00000439673.6:c.4951-1G>C | ENSP00000399232.2:n.4951-1G>C | |
| ENST00000497886.5:n.2983-1G>C | ||
| ENST00000568454.5:c.5092-1G>C | ENSP00000454487.1:n.5092-1G>C | |
| ENST00000569110.1:c.1442-1G>C | ||
| ENST00000569930.1:n.2375-1G>C | ||
| NM_000548.3:c.5260-1G>C , LRG_487t1:c.5260-1G>C | NP_000539.2:n.5260-1G>C | |
| NM_001077183.1:c.5059-1G>C | NP_001070651.1:n.5059-1G>C | |
| NM_001114382.1:c.5191-1G>C | NP_001107854.1:n.5191-1G>C | |
| XM_005255529.3:c.5131-1G>C | XP_005255586.2:n.5131-1G>C | |
| XM_005255531.3:c.5062-1G>C | XP_005255588.2:n.5062-1G>C | |
| XM_011522636.1:c.5314-1G>C | XP_011520938.1:n.5314-1G>C | |
| XM_011522637.1:c.5311-1G>C | XP_011520939.1:n.5311-1G>C | |
| XM_011522638.1:c.5203-1G>C | XP_011520940.1:n.5203-1G>C | |
| XM_011522639.1:c.5185-1G>C | XP_011520941.1:n.5185-1G>C | |
| XM_011522640.1:c.5182-1G>C | XP_011520942.1:n.5182-1G>C | |
| XM_011522641.1:c.4951-1G>C | XP_011520943.1:n.4951-1G>C | |
| NM_000548.4:c.5260-1G>C | NP_000539.2:n.5260-1G>C | |
| NM_001077183.2:c.5059-1G>C | NP_001070651.1:n.5059-1G>C | |
| NM_001114382.2:c.5191-1G>C | NP_001107854.1:n.5191-1G>C | |
| NM_001318827.1:c.4951-1G>C | NP_001305756.1:n.4951-1G>C | |
| NM_001318829.1:c.4915-1G>C | NP_001305758.1:n.4915-1G>C | |
| NM_001318831.1:c.4528-1G>C | NP_001305760.1:n.4528-1G>C | |
| NM_001318832.1:c.5092-1G>C | NP_001305761.1:n.5092-1G>C | |
| NM_001363528.1:c.5062-1G>C | NP_001350457.1:n.5062-1G>C | |
| NM_021055.2:c.5131-1G>C | NP_066399.2:n.5131-1G>C | |
| XM_005255531.4:c.5062-1G>C | XP_005255588.2:n.5062-1G>C | |
| XM_011522636.2:c.5314-1G>C | XP_011520938.1:n.5314-1G>C | |
| XM_011522637.2:c.5311-1G>C | XP_011520939.1:n.5311-1G>C | |
| XM_011522638.2:c.5476-1G>C | XP_011520940.2:n.5476-1G>C | |
| XM_011522639.2:c.5185-1G>C | XP_011520941.1:n.5185-1G>C | |
| XM_011522640.2:c.5182-1G>C | XP_011520942.1:n.5182-1G>C | |
| XM_017023615.1:c.5257-1G>C | XP_016879104.1:n.5257-1G>C | |
| XM_017023616.1:c.5128-1G>C | XP_016879105.1:n.5128-1G>C | |
| XM_017023617.1:c.5224-1G>C | XP_016879106.1:n.5224-1G>C | |
| XM_017023618.1:c.3970-1G>C | XP_016879107.1:n.3970-1G>C | |
| XM_024450413.1:c.5146-1G>C | XP_024306181.1:n.5146-1G>C | |
| NM_000548.5:c.5260-1G>C MANE Select | NP_000539.2:n.5260-1G>C | |
| NM_001370404.1:c.5128-1G>C | NP_001357333.1:n.5128-1G>C | |
| NM_001370405.1:c.5119-1G>C | NP_001357334.1:n.5119-1G>C | |
| NM_001077183.3:c.5059-1G>C | NP_001070651.1:n.5059-1G>C | |
| NM_001114382.3:c.5191-1G>C | NP_001107854.1:n.5191-1G>C | |
| NM_001318827.2:c.4951-1G>C | NP_001305756.1:n.4951-1G>C | |
| NM_001318829.2:c.4915-1G>C | NP_001305758.1:n.4915-1G>C | |
| NM_001318831.2:c.4528-1G>C | NP_001305760.1:n.4528-1G>C | |
| NM_001318832.2:c.5092-1G>C | NP_001305761.1:n.5092-1G>C | |
| NM_001363528.2:c.5062-1G>C | NP_001350457.1:n.5062-1G>C | |
| NM_021055.3:c.5131-1G>C | NP_066399.2:n.5131-1G>C |