Linked Data
ClinVar Variation Id:
283678
dbSNP Id:
rs199978708
ExAC:
15:42695932 C / G
gnomAD v2:
15-42695932-C-G
gnomAD v3:
15-42403734-C-G
gnomAD v4:
15-42403734-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42403734C>G , CM000677.2:g.42403734C>G | GRCh38 |
| NC_000015.9:g.42695932C>G , CM000677.1:g.42695932C>G | GRCh37 |
| NC_000015.8:g.40483224C>G | NCBI36 |
| NG_008660.1:g.60632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1602-7C>G | ENSP00000183936.4:n.1602-7C>G | |
| ENST00000357568.8:c.1746-7C>G | ENSP00000350181.3:n.1746-7C>G | |
| ENST00000397163.8:c.1746-7C>G MANE Select | ENSP00000380349.3:n.1746-7C>G | |
| ENST00000466369.5:n.2255-7C>G | ||
| ENST00000483208.5:n.2635-7C>G | ||
| ENST00000495723.1:n.2635-7C>G | ||
| ENST00000549793.5:n.1977-7C>G | ||
| ENST00000638141.2:n.1617-7C>G | ||
| ENST00000673646.1:c.210-7C>G | ENSP00000501007.1:n.210-7C>G | |
| ENST00000673705.1:c.309+4082C>G | ENSP00000501021.1:n.309+4082C>G | |
| ENST00000673813.1:n.581-7C>G | ||
| ENST00000318023.11:c.1602-7C>G | ENSP00000326281.8:n.1602-7C>G | |
| ENST00000349748.7:c.1602-7C>G | ENSP00000183936.4:n.1602-7C>G | |
| ENST00000357568.7:c.1746-7C>G | ENSP00000350181.3:n.1746-7C>G | |
| ENST00000397163.7:c.1746-7C>G | ENSP00000380349.3:n.1746-7C>G | |
| ENST00000397200.8:c.210-7C>G | ENSP00000380384.4:n.210-7C>G | |
| ENST00000567071.5:c.205-7C>G | ||
| ENST00000569827.5:c.210-7C>G | ENSP00000454379.1:n.210-7C>G | |
| NM_000070.2:c.1746-7C>G | NP_000061.1:n.1746-7C>G | |
| NM_024344.1:c.1746-7C>G | NP_077320.1:n.1746-7C>G | |
| NM_173087.1:c.1602-7C>G | NP_775110.1:n.1602-7C>G | |
| NM_173088.1:c.210-7C>G | NP_775111.1:n.210-7C>G | |
| NM_000070.3:c.1746-7C>G MANE Select | NP_000061.1:n.1746-7C>G | |
| NM_024344.2:c.1746-7C>G | NP_077320.1:n.1746-7C>G | |
| NM_173087.2:c.1602-7C>G | NP_775110.1:n.1602-7C>G | |
| NM_173088.2:c.210-7C>G | NP_775111.1:n.210-7C>G |