Linked Data
ClinVar Variation Id:
532759
ClinVar RCV Id:
RCV002232621
dbSNP Id:
rs769279961
ExAC:
9:35060924 G / C
gnomAD v2:
9-35060924-G-C
gnomAD v4:
9-35060927-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35060927G>C , CM000671.2:g.35060927G>C | GRCh38 |
| NC_000009.11:g.35060924G>C , CM000671.1:g.35060924G>C | GRCh37 |
| NC_000009.10:g.35050924G>C | NCBI36 |
| NG_007887.1:g.16816C>G , LRG_657:g.16816C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.1360-4C>G MANE Select | ENSP00000351777.6:n.1360-4C>G | |
| ENST00000417448.2:c.1225-4C>G | ENSP00000399456.2:n.1225-4C>G | |
| ENST00000448530.6:c.1225-4C>G | ENSP00000392088.2:n.1225-4C>G | |
| ENST00000480327.2:n.1498-4C>G | ||
| ENST00000676836.2:n.2103-4C>G | ||
| ENST00000677257.1:c.1354-4C>G | ENSP00000504354.1:n.1354-4C>G | |
| ENST00000678018.1:c.*1331-4C>G | ENSP00000503811.1:n.*1331-4C>G | |
| ENST00000678465.1:c.*372-4C>G | ENSP00000504259.1:n.*372-4C>G | |
| ENST00000678650.1:c.1225-4C>G | ENSP00000503426.1:n.1225-4C>G | |
| ENST00000679204.2:c.1374C>G | ENSP00000503131.2:p.Phe458Leu | |
| ENST00000679599.1:n.1630-4C>G | ||
| ENST00000679647.1:c.1360-4C>G | ENSP00000506216.1:n.1360-4C>G | |
| ENST00000679800.1:n.1759-4C>G | ||
| ENST00000679862.1:c.1225-4C>G | ENSP00000504990.1:n.1225-4C>G | |
| ENST00000679902.1:c.1360-4C>G | ENSP00000506338.1:n.1360-4C>G | |
| ENST00000680916.1:c.1360-4C>G | ENSP00000505769.1:n.1360-4C>G | |
| ENST00000681335.1:c.1360-4C>G | ENSP00000505230.1:n.1360-4C>G | |
| ENST00000681690.1:n.1632-4C>G | ||
| ENST00000358901.10:c.1360-4C>G | ENSP00000351777.6:n.1360-4C>G | |
| ENST00000480327.1:n.220-4C>G | ||
| ENST00000493886.5:n.1634-4C>G | ||
| NM_007126.3:c.1360-4C>G , LRG_657t1:c.1360-4C>G | NP_009057.1:n.1360-4C>G | |
| NM_001354927.1:c.1225-4C>G | NP_001341856.1:n.1225-4C>G | |
| NM_001354928.1:c.1225-4C>G | NP_001341857.1:n.1225-4C>G | |
| NM_007126.4:c.1360-4C>G | NP_009057.1:n.1360-4C>G | |
| NM_007126.5:c.1360-4C>G MANE Select | NP_009057.1:n.1360-4C>G | |
| NM_001354927.2:c.1225-4C>G | NP_001341856.1:n.1225-4C>G | |
| NM_001354928.2:c.1225-4C>G | NP_001341857.1:n.1225-4C>G |