Linked Data
ClinVar Variation Id:
785026
ClinVar RCV Id:
RCV000966842
dbSNP Id:
rs115220643
ExAC:
2:238990484 C / T
gnomAD v2:
2-238990484-C-T
gnomAD v3:
2-238081843-C-T
gnomAD v4:
2-238081843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238081843C>T , CM000664.2:g.238081843C>T | GRCh38 |
| NC_000002.11:g.238990484C>T , CM000664.1:g.238990484C>T | GRCh37 |
| NC_000002.10:g.238655223C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254663.12:c.612+7C>T (SCLY) MANE Select | ENSP00000254663.7:n.612+7C>T | |
| ENST00000412508.6:c.304-12018C>T (SCLY) | ENSP00000416344.2:n.304-12018C>T | |
| ENST00000413463.6:c.330+7C>T (SCLY) | ENSP00000414165.2:n.330+7C>T | |
| ENST00000651534.1:c.636+7C>T (SCLY) | ENSP00000499199.1:n.636+7C>T | |
| ENST00000254663.10:c.636+7C>T (SCLY) | ENSP00000254663.6:n.636+7C>T | |
| ENST00000409736.6:c.612+7C>T (SCLY) | ENSP00000387162.2:n.612+7C>T | |
| ENST00000412508.5:c.305-12018C>T (SCLY) | ||
| ENST00000413463.5:c.354+7C>T (SCLY) | ENSP00000414165.1:n.354+7C>T | |
| ENST00000423324.5:c.*179+7C>T (SCLY) | ENSP00000392517.1:n.*179+7C>T | |
| ENST00000431487.5:c.149+7C>T (SCLY) | ||
| ENST00000437134.5:c.142+7C>T (SCLY) | ||
| ENST00000443532.5:c.791+7C>T (SCLY) | ENSP00000406710.1:n.791+7C>T | |
| ENST00000449891.5:c.*762+7C>T (UBE2F-SCLY) | ENSP00000457658.1:n.*762+7C>T | |
| ENST00000450965.5:c.102+7C>T (SCLY) | ENSP00000414053.1:n.102+7C>T | |
| ENST00000480357.5:n.804+7C>T (SCLY) | ||
| ENST00000482031.5:n.520+7C>T (SCLY) | ||
| ENST00000497951.1:n.3272+7C>T (SCLY) | ||
| NM_016510.5:c.636+7C>T (SCLY) | NP_057594.4:n.636+7C>T | |
| NR_037904.1:n.1188+7C>T (UBE2F-SCLY) | ||
| NM_016510.6:c.612+7C>T (SCLY) | NP_057594.5:n.612+7C>T | |
| NM_016510.7:c.612+7C>T (SCLY) MANE Select | NP_057594.5:n.612+7C>T |