Linked Data
ClinVar Variation Id:
49855
dbSNP Id:
rs45448994
ExAC:
16:2132510 C / T
gnomAD v2:
16-2132510-C-T
gnomAD v3:
16-2082509-C-T
gnomAD v4:
16-2082509-C-T
PubMed:
PMID:16114042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2082509C>T , CM000678.2:g.2082509C>T | GRCh38 |
| NC_000016.9:g.2132510C>T , CM000678.1:g.2132510C>T | GRCh37 |
| NC_000016.8:g.2072511C>T | NCBI36 |
| NG_005895.1:g.38204C>T , LRG_487:g.38204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2232+711C>T | ENSP00000455997.2:n.*2232+711C>T | |
| ENST00000642206.2:c.3730+711C>T | ENSP00000495146.2:n.3730+711C>T | |
| ENST00000642365.2:c.3880+5C>T | ENSP00000495459.2:n.3880+5C>T | |
| ENST00000644417.2:c.*4263+711C>T | ENSP00000493912.2:n.*4263+711C>T | |
| ENST00000646464.2:c.*5447C>T | ENSP00000496610.2:n.*5447C>T | |
| ENST00000219476.9:c.3883+5C>T MANE Select | ENSP00000219476.3:n.3883+5C>T | |
| ENST00000350773.9:c.3814+711C>T | ENSP00000344383.4:n.3814+711C>T | |
| ENST00000401874.7:c.3682+711C>T | ENSP00000384468.2:n.3682+711C>T | |
| ENST00000568454.6:c.3715+711C>T | ENSP00000454487.1:n.3715+711C>T | |
| ENST00000569110.2:c.70C>T | ||
| ENST00000569930.2:n.580C>T | ||
| ENST00000642365.1:c.2537+5C>T | ||
| ENST00000642561.1:c.3754+5C>T | ENSP00000495099.1:n.3754+5C>T | |
| ENST00000642797.1:c.3685+711C>T | ENSP00000493846.1:n.3685+711C>T | |
| ENST00000642936.1:c.3751+5C>T | ENSP00000494514.1:n.3751+5C>T | |
| ENST00000643088.1:c.3682+711C>T | ENSP00000494747.1:n.3682+711C>T | |
| ENST00000643426.1:n.1531+5C>T | ||
| ENST00000643533.1:n.324+711C>T | ||
| ENST00000643946.1:c.3814+711C>T | ENSP00000495927.1:n.3814+711C>T | |
| ENST00000644043.1:c.3754+5C>T | ENSP00000496262.1:n.3754+5C>T | |
| ENST00000644329.1:c.3682+711C>T | ENSP00000496611.1:n.3682+711C>T | |
| ENST00000644335.1:c.3685+711C>T | ENSP00000496317.1:n.3685+711C>T | |
| ENST00000644399.1:c.3804+711C>T | ||
| ENST00000645024.1:n.1967+711C>T | ||
| ENST00000645186.1:c.41C>T | ||
| ENST00000646388.1:c.3883+5C>T | ENSP00000495921.1:n.3883+5C>T | |
| ENST00000646634.1:n.2698+711C>T | ||
| ENST00000646674.1:n.1135+5C>T | ||
| ENST00000647042.1:n.1106+711C>T | ||
| ENST00000647180.1:n.996+9C>T | ||
| ENST00000219476.7:c.3883+5C>T | ENSP00000219476.3:n.3883+5C>T | |
| ENST00000350773.8:c.3814+711C>T | ENSP00000344383.4:n.3814+711C>T | |
| ENST00000382538.10:c.3538+711C>T | ENSP00000371978.6:n.3538+711C>T | |
| ENST00000401874.6:c.3682+711C>T | ENSP00000384468.2:n.3682+711C>T | |
| ENST00000439117.6:c.*3050+5C>T | ENSP00000406980.2:n.*3050+5C>T | |
| ENST00000439673.6:c.3574+711C>T | ENSP00000399232.2:n.3574+711C>T | |
| ENST00000497886.5:n.1641+711C>T | ||
| ENST00000568454.5:c.3715+711C>T | ENSP00000454487.1:n.3715+711C>T | |
| NM_000548.3:c.3883+5C>T , LRG_487t1:c.3883+5C>T | NP_000539.2:n.3883+5C>T | |
| NM_001077183.1:c.3682+711C>T | NP_001070651.1:n.3682+711C>T | |
| NM_001114382.1:c.3814+711C>T | NP_001107854.1:n.3814+711C>T | |
| XM_005255529.3:c.3754+5C>T | XP_005255586.2:n.3754+5C>T | |
| XM_005255531.3:c.3685+711C>T | XP_005255588.2:n.3685+711C>T | |
| XM_011522636.1:c.3888C>T | XP_011520938.1:p.Ile1296= | |
| XM_011522637.1:c.3885C>T | XP_011520939.1:p.Ile1295= | |
| XM_011522638.1:c.3777C>T | XP_011520940.1:p.Ile1259= | |
| XM_011522639.1:c.3759C>T | XP_011520941.1:p.Ile1253= | |
| XM_011522640.1:c.3756C>T | XP_011520942.1:p.Ile1252= | |
| XM_011522641.1:c.3574+711C>T | XP_011520943.1:n.3574+711C>T | |
| NM_000548.4:c.3883+5C>T | NP_000539.2:n.3883+5C>T | |
| NM_001077183.2:c.3682+711C>T | NP_001070651.1:n.3682+711C>T | |
| NM_001114382.2:c.3814+711C>T | NP_001107854.1:n.3814+711C>T | |
| NM_001318827.1:c.3574+711C>T | NP_001305756.1:n.3574+711C>T | |
| NM_001318829.1:c.3538+711C>T | NP_001305758.1:n.3538+711C>T | |
| NM_001318831.1:c.3151+5C>T | NP_001305760.1:n.3151+5C>T | |
| NM_001318832.1:c.3715+711C>T | NP_001305761.1:n.3715+711C>T | |
| NM_001363528.1:c.3685+711C>T | NP_001350457.1:n.3685+711C>T | |
| NM_021055.2:c.3754+5C>T | NP_066399.2:n.3754+5C>T | |
| XM_005255531.4:c.3685+711C>T | XP_005255588.2:n.3685+711C>T | |
| XM_011522636.2:c.3888C>T | XP_011520938.1:p.Ile1296= | |
| XM_011522637.2:c.3885C>T | XP_011520939.1:p.Ile1295= | |
| XM_011522638.2:c.4050C>T | XP_011520940.2:p.Ile1350= | |
| XM_011522639.2:c.3759C>T | XP_011520941.1:p.Ile1253= | |
| XM_011522640.2:c.3756C>T | XP_011520942.1:p.Ile1252= | |
| XM_017023615.1:c.3880+5C>T | XP_016879104.1:n.3880+5C>T | |
| XM_017023616.1:c.3751+5C>T | XP_016879105.1:n.3751+5C>T | |
| XM_017023617.1:c.3847+711C>T | XP_016879106.1:n.3847+711C>T | |
| XM_017023618.1:c.2544C>T | XP_016879107.1:p.Ile848= | |
| XM_024450413.1:c.3682+711C>T | XP_024306181.1:n.3682+711C>T | |
| NM_000548.5:c.3883+5C>T MANE Select | NP_000539.2:n.3883+5C>T | |
| NM_001370404.1:c.3751+5C>T | NP_001357333.1:n.3751+5C>T | |
| NM_001370405.1:c.3754+5C>T | NP_001357334.1:n.3754+5C>T | |
| NM_001077183.3:c.3682+711C>T | NP_001070651.1:n.3682+711C>T | |
| NM_001114382.3:c.3814+711C>T | NP_001107854.1:n.3814+711C>T | |
| NM_001318827.2:c.3574+711C>T | NP_001305756.1:n.3574+711C>T | |
| NM_001318829.2:c.3538+711C>T | NP_001305758.1:n.3538+711C>T | |
| NM_001318831.2:c.3151+5C>T | NP_001305760.1:n.3151+5C>T | |
| NM_001318832.2:c.3715+711C>T | NP_001305761.1:n.3715+711C>T | |
| NM_001363528.2:c.3685+711C>T | NP_001350457.1:n.3685+711C>T | |
| NM_021055.3:c.3754+5C>T | NP_066399.2:n.3754+5C>T |