Linked Data
ClinVar Variation Id:
283822
ClinVar RCV Id:
RCV000299256
RCV000725340
RCV001088317
RCV001120151
RCV001120152
RCV001120153
RCV001271322
RCV004543032
dbSNP Id:
rs373003699
ExAC:
16:53652930 T / C
gnomAD v2:
16-53652930-T-C
gnomAD v3:
16-53619018-T-C
gnomAD v4:
16-53619018-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53619018T>C , CM000678.2:g.53619018T>C | GRCh38 |
| NC_000016.9:g.53652930T>C , CM000678.1:g.53652930T>C | GRCh37 |
| NC_000016.8:g.52210431T>C | NCBI36 |
| NG_008991.2:g.89842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3376+7A>G | ENSP00000262135.4:n.3376+7A>G | |
| ENST00000565343.2:n.4040+7A>G | ||
| ENST00000621565.5:c.3478+7A>G | ENSP00000480698.1:n.3478+7A>G | |
| ENST00000647211.2:c.3616+7A>G MANE Select | ENSP00000493946.1:n.3616+7A>G | |
| ENST00000680193.1:c.*376+7A>G | ENSP00000506379.1:n.*376+7A>G | |
| ENST00000681587.1:n.1388+7A>G | ||
| ENST00000262135.8:c.3376+7A>G | ENSP00000262135.4:n.3376+7A>G | |
| ENST00000379925.7:c.3616+7A>G | ENSP00000369257.3:n.3616+7A>G | |
| ENST00000563746.5:c.3514+7A>G | ENSP00000457889.1:n.3514+7A>G | |
| ENST00000564374.5:c.3478+7A>G | ENSP00000456534.1:n.3478+7A>G | |
| ENST00000621565.4:c.3478+7A>G | ENSP00000480698.1:n.3478+7A>G | |
| NM_001127897.1:c.3376+7A>G | NP_001121369.1:n.3376+7A>G | |
| NM_001127897.2:c.3376+7A>G | NP_001121369.1:n.3376+7A>G | |
| NM_001308334.1:c.3478+7A>G | NP_001295263.1:n.3478+7A>G | |
| NM_015272.2:c.3616+7A>G | NP_056087.2:n.3616+7A>G | |
| NM_015272.3:c.3616+7A>G | NP_056087.2:n.3616+7A>G | |
| XM_005255867.1:c.3514+7A>G | XP_005255924.1:n.3514+7A>G | |
| XM_005255868.1:c.3490+7A>G | XP_005255925.1:n.3490+7A>G | |
| XM_005255871.2:c.1723+7A>G | XP_005255928.1:n.1723+7A>G | |
| XM_011522968.1:c.3616+7A>G | XP_011521270.1:n.3616+7A>G | |
| XM_011522969.1:c.3490+7A>G | XP_011521271.1:n.3490+7A>G | |
| XM_011522974.1:c.1723+7A>G | XP_011521276.1:n.1723+7A>G | |
| XR_933260.1:n.3522+7A>G | ||
| NM_001127897.3:c.3376+7A>G | NP_001121369.1:n.3376+7A>G | |
| NM_001308334.2:c.3478+7A>G | NP_001295263.1:n.3478+7A>G | |
| NM_001330538.1:c.3514+7A>G | NP_001317467.1:n.3514+7A>G | |
| NM_015272.4:c.3616+7A>G | NP_056087.2:n.3616+7A>G | |
| XM_005255868.2:c.3490+7A>G | XP_005255925.1:n.3490+7A>G | |
| XM_017023094.2:c.3628+7A>G | XP_016878583.1:n.3628+7A>G | |
| XM_017023095.2:c.3388+7A>G | XP_016878584.1:n.3388+7A>G | |
| XM_017023096.2:c.3490+7A>G | XP_016878585.1:n.3490+7A>G | |
| XM_017023098.1:c.1861+7A>G | XP_016878587.1:n.1861+7A>G | |
| XM_017023099.1:c.1861+7A>G | XP_016878588.1:n.1861+7A>G | |
| XR_933260.3:n.3533+7A>G | ||
| NM_015272.5:c.3616+7A>G MANE Select | NP_056087.2:n.3616+7A>G | |
| NM_001127897.4:c.3376+7A>G | NP_001121369.1:n.3376+7A>G | |
| NM_001330538.2:c.3514+7A>G | NP_001317467.1:n.3514+7A>G | |
| NM_001308334.3:c.3478+7A>G | NP_001295263.1:n.3478+7A>G |