Linked Data
ClinVar Variation Id:
256840
dbSNP Id:
rs1057868
ExAC:
7:75615006 C / T
gnomAD v2:
7-75615006-C-T
gnomAD v3:
7-75985688-C-T
gnomAD v4:
7-75985688-C-T
PubMed:
PMID:16467261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75985688C>T , CM000669.2:g.75985688C>T | GRCh38 |
| NC_000007.13:g.75615006C>T , CM000669.1:g.75615006C>T | GRCh37 |
| NC_000007.12:g.75452942C>T | NCBI36 |
| NG_008930.1:g.75587C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.1283C>T | ENSP00000516446.1:p.Ala428Val | |
| ENST00000706544.1:c.1409C>T | ENSP00000516442.1:p.Ala470Val | |
| ENST00000706545.1:c.1508C>T | ENSP00000516443.1:p.Ala503Val | |
| ENST00000706546.1:c.1508C>T | ENSP00000516444.1:p.Ala503Val | |
| ENST00000706547.1:c.1508C>T | ENSP00000516445.1:p.Ala503Val | |
| ENST00000461988.6:c.1508C>T MANE Select | ENSP00000419970.1:p.Ala503Val | |
| ENST00000394893.5:c.1508C>T | ENSP00000378355.1:p.Ala503Val | |
| ENST00000412064.6:c.*109-372C>T | ENSP00000404731.2:n.*109-372C>T | |
| ENST00000439269.1:c.722C>T | ENSP00000412490.1:p.Ala241Val | |
| ENST00000447222.5:c.1659C>T | ||
| ENST00000454934.5:c.*813C>T | ENSP00000414263.1:n.*813C>T | |
| ENST00000461988.5:c.1508C>T | ENSP00000419970.1:p.Ala503Val | |
| ENST00000493973.1:n.119C>T | ||
| ENST00000496888.5:n.882C>T | ||
| NM_000941.2:c.1508C>T | NP_000932.3:p.Ala503Val | |
| NM_000941.3:c.1508C>T | NP_000932.3:p.Ala503Val | |
| NM_001367562.1:c.1508C>T | NP_001354491.1:p.Ala503Val | |
| NM_001382655.1:c.1562C>T | NP_001369584.1:p.Ala521Val | |
| NM_001382657.1:c.1508C>T | NP_001369586.1:p.Ala503Val | |
| NM_001382658.1:c.1508C>T | NP_001369587.1:p.Ala503Val | |
| NM_001382659.1:c.1508C>T | NP_001369588.1:p.Ala503Val | |
| NM_001382662.1:c.1358C>T | NP_001369591.1:p.Ala453Val | |
| NM_001367562.3:c.1499C>T | NP_001354491.2:p.Ala500Val | |
| NM_001382655.3:c.1553C>T | NP_001369584.2:p.Ala518Val | |
| NM_001382657.2:c.1499C>T | NP_001369586.2:p.Ala500Val | |
| NM_001382658.3:c.1499C>T | NP_001369587.2:p.Ala500Val | |
| NM_001382659.3:c.1499C>T | NP_001369588.2:p.Ala500Val | |
| NM_001382662.3:c.1349C>T | NP_001369591.2:p.Ala450Val | |
| NM_001395413.1:c.1499C>T MANE Select | NP_001382342.1:p.Ala500Val |