Linked Data
ClinVar Variation Id:
468045
dbSNP Id:
rs397515219
gnomAD v2:
16-2133688-C-G
gnomAD v3:
16-2083687-C-G
gnomAD v4:
16-2083687-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2083687C>G , CM000678.2:g.2083687C>G | GRCh38 |
| NC_000016.9:g.2133688C>G , CM000678.1:g.2133688C>G | GRCh37 |
| NC_000016.8:g.2073689C>G | NCBI36 |
| NG_005895.1:g.39382C>G , LRG_487:g.39382C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2233-8C>G | ENSP00000455997.2:n.*2233-8C>G | |
| ENST00000642206.2:c.3731-8C>G | ENSP00000495146.2:n.3731-8C>G | |
| ENST00000642365.2:c.3881-8C>G | ENSP00000495459.2:n.3881-8C>G | |
| ENST00000644417.2:c.*4264-8C>G | ENSP00000493912.2:n.*4264-8C>G | |
| ENST00000646464.2:c.*6625C>G | ENSP00000496610.2:n.*6625C>G | |
| ENST00000219476.9:c.3884-8C>G MANE Select | ENSP00000219476.3:n.3884-8C>G | |
| ENST00000350773.9:c.3815-8C>G | ENSP00000344383.4:n.3815-8C>G | |
| ENST00000401874.7:c.3683-8C>G | ENSP00000384468.2:n.3683-8C>G | |
| ENST00000568454.6:c.3716-8C>G | ENSP00000454487.1:n.3716-8C>G | |
| ENST00000569110.2:c.120-8C>G | ||
| ENST00000569930.2:n.1758C>G | ||
| ENST00000642365.1:c.2538-8C>G | ||
| ENST00000642561.1:c.3755-8C>G | ENSP00000495099.1:n.3755-8C>G | |
| ENST00000642728.1:n.66-8C>G | ||
| ENST00000642797.1:c.3686-8C>G | ENSP00000493846.1:n.3686-8C>G | |
| ENST00000642936.1:c.3752-8C>G | ENSP00000494514.1:n.3752-8C>G | |
| ENST00000643088.1:c.3683-8C>G | ENSP00000494747.1:n.3683-8C>G | |
| ENST00000643426.1:n.1532-8C>G | ||
| ENST00000643533.1:n.325-8C>G | ||
| ENST00000643946.1:c.3815-8C>G | ENSP00000495927.1:n.3815-8C>G | |
| ENST00000644043.1:c.3755-8C>G | ENSP00000496262.1:n.3755-8C>G | |
| ENST00000644329.1:c.3683-8C>G | ENSP00000496611.1:n.3683-8C>G | |
| ENST00000644335.1:c.3686-8C>G | ENSP00000496317.1:n.3686-8C>G | |
| ENST00000644399.1:c.3805-8C>G | ||
| ENST00000645024.1:n.1968-8C>G | ||
| ENST00000645186.1:c.127-8C>G | ||
| ENST00000646388.1:c.3884-8C>G | ENSP00000495921.1:n.3884-8C>G | |
| ENST00000646634.1:n.2699-8C>G | ||
| ENST00000646674.1:n.1136-8C>G | ||
| ENST00000647042.1:n.1107-8C>G | ||
| ENST00000647180.1:n.997-8C>G | ||
| ENST00000219476.7:c.3884-8C>G | ENSP00000219476.3:n.3884-8C>G | |
| ENST00000350773.8:c.3815-8C>G | ENSP00000344383.4:n.3815-8C>G | |
| ENST00000382538.10:c.3539-8C>G | ENSP00000371978.6:n.3539-8C>G | |
| ENST00000401874.6:c.3683-8C>G | ENSP00000384468.2:n.3683-8C>G | |
| ENST00000439117.6:c.*3051-8C>G | ENSP00000406980.2:n.*3051-8C>G | |
| ENST00000439673.6:c.3575-8C>G | ENSP00000399232.2:n.3575-8C>G | |
| ENST00000497886.5:n.1642-8C>G | ||
| ENST00000568454.5:c.3716-8C>G | ENSP00000454487.1:n.3716-8C>G | |
| ENST00000569110.1:c.66-8C>G | ||
| ENST00000569930.1:n.991C>G | ||
| NM_000548.3:c.3884-8C>G , LRG_487t1:c.3884-8C>G | NP_000539.2:n.3884-8C>G | |
| NM_001077183.1:c.3683-8C>G | NP_001070651.1:n.3683-8C>G | |
| NM_001114382.1:c.3815-8C>G | NP_001107854.1:n.3815-8C>G | |
| XM_005255529.3:c.3755-8C>G | XP_005255586.2:n.3755-8C>G | |
| XM_005255531.3:c.3686-8C>G | XP_005255588.2:n.3686-8C>G | |
| XM_011522636.1:c.3938-8C>G | XP_011520938.1:n.3938-8C>G | |
| XM_011522637.1:c.3935-8C>G | XP_011520939.1:n.3935-8C>G | |
| XM_011522638.1:c.3827-8C>G | XP_011520940.1:n.3827-8C>G | |
| XM_011522639.1:c.3809-8C>G | XP_011520941.1:n.3809-8C>G | |
| XM_011522640.1:c.3806-8C>G | XP_011520942.1:n.3806-8C>G | |
| XM_011522641.1:c.3575-8C>G | XP_011520943.1:n.3575-8C>G | |
| NM_000548.4:c.3884-8C>G | NP_000539.2:n.3884-8C>G | |
| NM_001077183.2:c.3683-8C>G | NP_001070651.1:n.3683-8C>G | |
| NM_001114382.2:c.3815-8C>G | NP_001107854.1:n.3815-8C>G | |
| NM_001318827.1:c.3575-8C>G | NP_001305756.1:n.3575-8C>G | |
| NM_001318829.1:c.3539-8C>G | NP_001305758.1:n.3539-8C>G | |
| NM_001318831.1:c.3152-8C>G | NP_001305760.1:n.3152-8C>G | |
| NM_001318832.1:c.3716-8C>G | NP_001305761.1:n.3716-8C>G | |
| NM_001363528.1:c.3686-8C>G | NP_001350457.1:n.3686-8C>G | |
| NM_021055.2:c.3755-8C>G | NP_066399.2:n.3755-8C>G | |
| XM_005255531.4:c.3686-8C>G | XP_005255588.2:n.3686-8C>G | |
| XM_011522636.2:c.3938-8C>G | XP_011520938.1:n.3938-8C>G | |
| XM_011522637.2:c.3935-8C>G | XP_011520939.1:n.3935-8C>G | |
| XM_011522638.2:c.4100-8C>G | XP_011520940.2:n.4100-8C>G | |
| XM_011522639.2:c.3809-8C>G | XP_011520941.1:n.3809-8C>G | |
| XM_011522640.2:c.3806-8C>G | XP_011520942.1:n.3806-8C>G | |
| XM_017023615.1:c.3881-8C>G | XP_016879104.1:n.3881-8C>G | |
| XM_017023616.1:c.3752-8C>G | XP_016879105.1:n.3752-8C>G | |
| XM_017023617.1:c.3848-8C>G | XP_016879106.1:n.3848-8C>G | |
| XM_017023618.1:c.2594-8C>G | XP_016879107.1:n.2594-8C>G | |
| XM_024450413.1:c.3683-8C>G | XP_024306181.1:n.3683-8C>G | |
| NM_000548.5:c.3884-8C>G MANE Select | NP_000539.2:n.3884-8C>G | |
| NM_001370404.1:c.3752-8C>G | NP_001357333.1:n.3752-8C>G | |
| NM_001370405.1:c.3755-8C>G | NP_001357334.1:n.3755-8C>G | |
| NM_001077183.3:c.3683-8C>G | NP_001070651.1:n.3683-8C>G | |
| NM_001114382.3:c.3815-8C>G | NP_001107854.1:n.3815-8C>G | |
| NM_001318827.2:c.3575-8C>G | NP_001305756.1:n.3575-8C>G | |
| NM_001318829.2:c.3539-8C>G | NP_001305758.1:n.3539-8C>G | |
| NM_001318831.2:c.3152-8C>G | NP_001305760.1:n.3152-8C>G | |
| NM_001318832.2:c.3716-8C>G | NP_001305761.1:n.3716-8C>G | |
| NM_001363528.2:c.3686-8C>G | NP_001350457.1:n.3686-8C>G | |
| NM_021055.3:c.3755-8C>G | NP_066399.2:n.3755-8C>G |