Linked Data
ClinVar Variation Id:
514506
dbSNP Id:
rs1555440351
gnomAD v3:
16-2088215-C-G
gnomAD v4:
16-2088215-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088215C>G , CM000678.2:g.2088215C>G | GRCh38 |
| NC_000016.9:g.2138216C>G , CM000678.1:g.2138216C>G | GRCh37 |
| NC_000016.8:g.2078217C>G | NCBI36 |
| NG_005895.1:g.43910C>G , LRG_487:g.43910C>G | |
| NG_008617.1:g.55006G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3510-12C>G | ENSP00000455997.2:n.*3510-12C>G | |
| ENST00000642206.2:c.5008-12C>G | ENSP00000495146.2:n.5008-12C>G | |
| ENST00000642365.2:c.5158-12C>G | ENSP00000495459.2:n.5158-12C>G | |
| ENST00000644417.2:c.*5674-12C>G | ENSP00000493912.2:n.*5674-12C>G | |
| ENST00000646464.2:c.*7910-12C>G | ENSP00000496610.2:n.*7910-12C>G | |
| ENST00000219476.9:c.5161-12C>G MANE Select | ENSP00000219476.3:n.5161-12C>G | |
| ENST00000350773.9:c.5092-12C>G | ENSP00000344383.4:n.5092-12C>G | |
| ENST00000401874.7:c.4960-12C>G | ENSP00000384468.2:n.4960-12C>G | |
| ENST00000568454.6:c.4993-12C>G | ENSP00000454487.1:n.4993-12C>G | |
| ENST00000569110.2:c.1384-12C>G | ||
| ENST00000569930.2:n.3043-12C>G | ||
| ENST00000642365.1:c.3815-12C>G | ||
| ENST00000642561.1:c.5032-24C>G | ENSP00000495099.1:n.5032-24C>G | |
| ENST00000642791.1:n.758-12C>G | ||
| ENST00000642797.1:c.4963-12C>G | ENSP00000493846.1:n.4963-12C>G | |
| ENST00000642936.1:c.5029-12C>G | ENSP00000494514.1:n.5029-12C>G | |
| ENST00000643088.1:c.4954-12C>G | ENSP00000494747.1:n.4954-12C>G | |
| ENST00000643426.1:n.2809-12C>G | ||
| ENST00000643946.1:c.5086-12C>G | ENSP00000495927.1:n.5086-12C>G | |
| ENST00000644043.1:c.5032-12C>G | ENSP00000496262.1:n.5032-12C>G | |
| ENST00000644329.1:c.5035C>G | ENSP00000496611.1:p.Leu1679Val | |
| ENST00000644335.1:c.4957-12C>G | ENSP00000496317.1:n.4957-12C>G | |
| ENST00000644399.1:c.5082-12C>G | ||
| ENST00000645024.1:n.3245-12C>G | ||
| ENST00000646388.1:c.5155-12C>G | ENSP00000495921.1:n.5155-12C>G | |
| ENST00000646634.1:n.3976-12C>G | ||
| ENST00000646674.1:n.2413-12C>G | ||
| ENST00000647042.1:n.2384-12C>G | ||
| ENST00000647180.1:n.2274-12C>G | ||
| ENST00000219476.7:c.5161-12C>G | ENSP00000219476.3:n.5161-12C>G | |
| ENST00000350773.8:c.5092-12C>G | ENSP00000344383.4:n.5092-12C>G | |
| ENST00000382538.10:c.4816-12C>G | ENSP00000371978.6:n.4816-12C>G | |
| ENST00000401874.6:c.4960-12C>G | ENSP00000384468.2:n.4960-12C>G | |
| ENST00000439117.6:c.*4328-12C>G | ENSP00000406980.2:n.*4328-12C>G | |
| ENST00000439673.6:c.4852-12C>G | ENSP00000399232.2:n.4852-12C>G | |
| ENST00000497886.5:n.2884-12C>G | ||
| ENST00000568454.5:c.4993-12C>G | ENSP00000454487.1:n.4993-12C>G | |
| ENST00000569110.1:c.1343-12C>G | ||
| ENST00000569930.1:n.2276-12C>G | ||
| NM_000548.3:c.5161-12C>G , LRG_487t1:c.5161-12C>G | NP_000539.2:n.5161-12C>G | |
| NM_001077183.1:c.4960-12C>G | NP_001070651.1:n.4960-12C>G | |
| NM_001114382.1:c.5092-12C>G | NP_001107854.1:n.5092-12C>G | |
| XM_005255529.3:c.5032-12C>G | XP_005255586.2:n.5032-12C>G | |
| XM_005255531.3:c.4963-12C>G | XP_005255588.2:n.4963-12C>G | |
| XM_011522636.1:c.5215-12C>G | XP_011520938.1:n.5215-12C>G | |
| XM_011522637.1:c.5212-12C>G | XP_011520939.1:n.5212-12C>G | |
| XM_011522638.1:c.5104-12C>G | XP_011520940.1:n.5104-12C>G | |
| XM_011522639.1:c.5086-12C>G | XP_011520941.1:n.5086-12C>G | |
| XM_011522640.1:c.5083-12C>G | XP_011520942.1:n.5083-12C>G | |
| XM_011522641.1:c.4852-12C>G | XP_011520943.1:n.4852-12C>G | |
| NM_000548.4:c.5161-12C>G | NP_000539.2:n.5161-12C>G | |
| NM_001077183.2:c.4960-12C>G | NP_001070651.1:n.4960-12C>G | |
| NM_001114382.2:c.5092-12C>G | NP_001107854.1:n.5092-12C>G | |
| NM_001318827.1:c.4852-12C>G | NP_001305756.1:n.4852-12C>G | |
| NM_001318829.1:c.4816-12C>G | NP_001305758.1:n.4816-12C>G | |
| NM_001318831.1:c.4429-12C>G | NP_001305760.1:n.4429-12C>G | |
| NM_001318832.1:c.4993-12C>G | NP_001305761.1:n.4993-12C>G | |
| NM_001363528.1:c.4963-12C>G | NP_001350457.1:n.4963-12C>G | |
| NM_021055.2:c.5032-12C>G | NP_066399.2:n.5032-12C>G | |
| XM_005255531.4:c.4963-12C>G | XP_005255588.2:n.4963-12C>G | |
| XM_011522636.2:c.5215-12C>G | XP_011520938.1:n.5215-12C>G | |
| XM_011522637.2:c.5212-12C>G | XP_011520939.1:n.5212-12C>G | |
| XM_011522638.2:c.5377-12C>G | XP_011520940.2:n.5377-12C>G | |
| XM_011522639.2:c.5086-12C>G | XP_011520941.1:n.5086-12C>G | |
| XM_011522640.2:c.5083-12C>G | XP_011520942.1:n.5083-12C>G | |
| XM_017023615.1:c.5158-12C>G | XP_016879104.1:n.5158-12C>G | |
| XM_017023616.1:c.5029-12C>G | XP_016879105.1:n.5029-12C>G | |
| XM_017023617.1:c.5125-12C>G | XP_016879106.1:n.5125-12C>G | |
| XM_017023618.1:c.3871-12C>G | XP_016879107.1:n.3871-12C>G | |
| XM_024450413.1:c.5035C>G | XP_024306181.1:p.Leu1679Val | |
| NM_000548.5:c.5161-12C>G MANE Select | NP_000539.2:n.5161-12C>G | |
| NM_001370404.1:c.5029-12C>G | NP_001357333.1:n.5029-12C>G | |
| NM_001370405.1:c.5032-24C>G | NP_001357334.1:n.5032-24C>G | |
| NM_001077183.3:c.4960-12C>G | NP_001070651.1:n.4960-12C>G | |
| NM_001114382.3:c.5092-12C>G | NP_001107854.1:n.5092-12C>G | |
| NM_001318827.2:c.4852-12C>G | NP_001305756.1:n.4852-12C>G | |
| NM_001318829.2:c.4816-12C>G | NP_001305758.1:n.4816-12C>G | |
| NM_001318831.2:c.4429-12C>G | NP_001305760.1:n.4429-12C>G | |
| NM_001318832.2:c.4993-12C>G | NP_001305761.1:n.4993-12C>G | |
| NM_001363528.2:c.4963-12C>G | NP_001350457.1:n.4963-12C>G | |
| NM_021055.3:c.5032-12C>G | NP_066399.2:n.5032-12C>G |