Linked Data
ClinVar Variation Id:
1236329
ClinVar RCV Id:
RCV001638316
dbSNP Id:
rs4732515
gnomAD v2:
7-75614029-T-C
gnomAD v3:
7-75984711-T-C
gnomAD v4:
7-75984711-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984711T>C , CM000669.2:g.75984711T>C | GRCh38 |
| NC_000007.13:g.75614029T>C , CM000669.1:g.75614029T>C | GRCh37 |
| NC_000007.12:g.75451965T>C | NCBI36 |
| NG_008930.1:g.74610T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.842-66T>C | ENSP00000516446.1:n.842-66T>C | |
| ENST00000706544.1:c.968-66T>C | ENSP00000516442.1:n.968-66T>C | |
| ENST00000706545.1:c.1067-66T>C | ENSP00000516443.1:n.1067-66T>C | |
| ENST00000706546.1:c.1067-66T>C | ENSP00000516444.1:n.1067-66T>C | |
| ENST00000706547.1:c.1067-66T>C | ENSP00000516445.1:n.1067-66T>C | |
| ENST00000461988.6:c.1067-66T>C MANE Select | ENSP00000419970.1:n.1067-66T>C | |
| ENST00000394893.5:c.1067-66T>C | ENSP00000378355.1:n.1067-66T>C | |
| ENST00000412064.6:c.*108+1075T>C | ENSP00000404731.2:n.*108+1075T>C | |
| ENST00000439269.1:c.281-66T>C | ENSP00000412490.1:n.281-66T>C | |
| ENST00000447222.5:c.1218-66T>C | ||
| ENST00000454934.5:c.*372-66T>C | ENSP00000414263.1:n.*372-66T>C | |
| ENST00000461988.5:c.1067-66T>C | ENSP00000419970.1:n.1067-66T>C | |
| ENST00000487247.5:n.422-66T>C | ||
| ENST00000495770.1:n.69-66T>C | ||
| ENST00000496888.5:n.441-66T>C | ||
| NM_000941.2:c.1067-66T>C | NP_000932.3:n.1067-66T>C | |
| NM_000941.3:c.1067-66T>C | NP_000932.3:n.1067-66T>C | |
| NM_001367562.1:c.1067-66T>C | NP_001354491.1:n.1067-66T>C | |
| NM_001382655.1:c.1121-66T>C | NP_001369584.1:n.1121-66T>C | |
| NM_001382657.1:c.1067-66T>C | NP_001369586.1:n.1067-66T>C | |
| NM_001382658.1:c.1067-66T>C | NP_001369587.1:n.1067-66T>C | |
| NM_001382659.1:c.1067-66T>C | NP_001369588.1:n.1067-66T>C | |
| NM_001382662.1:c.1067-66T>C | NP_001369591.1:n.1067-66T>C | |
| NM_001367562.3:c.1058-66T>C | NP_001354491.2:n.1058-66T>C | |
| NM_001382655.3:c.1112-66T>C | NP_001369584.2:n.1112-66T>C | |
| NM_001382657.2:c.1058-66T>C | NP_001369586.2:n.1058-66T>C | |
| NM_001382658.3:c.1058-66T>C | NP_001369587.2:n.1058-66T>C | |
| NM_001382659.3:c.1058-66T>C | NP_001369588.2:n.1058-66T>C | |
| NM_001382662.3:c.1058-66T>C | NP_001369591.2:n.1058-66T>C | |
| NM_001395413.1:c.1058-66T>C MANE Select | NP_001382342.1:n.1058-66T>C |