Linked Data
ClinVar Variation Id:
791706
dbSNP Id:
rs114493681
ExAC:
6:158535846 C / T
gnomAD v2:
6-158535846-C-T
gnomAD v3:
6-158114814-C-T
gnomAD v4:
6-158114814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114814C>T , CM000668.2:g.158114814C>T | GRCh38 |
| NC_000006.11:g.158535846C>T , CM000668.1:g.158535846C>T | GRCh37 |
| NC_000006.10:g.158455834C>T | NCBI36 |
| NG_032889.1:g.58467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1379G>A | ENSP00000475855.1:n.*1379G>A | |
| ENST00000642244.1:c.1569G>A | ENSP00000493554.1:p.Ser523= | |
| ENST00000642903.1:c.1659G>A | ENSP00000493559.1:p.Ser553= | |
| ENST00000644972.1:c.1659G>A | ENSP00000496451.1:p.Ser553= | |
| ENST00000645077.1:c.*1280G>A | ENSP00000496113.1:n.*1280G>A | |
| ENST00000645172.1:c.*1361G>A | ENSP00000495367.1:n.*1361G>A | |
| ENST00000646190.1:n.2990G>A | ||
| ENST00000646208.1:c.1395G>A | ENSP00000493723.1:p.Ser465= | |
| ENST00000646410.1:c.1530G>A | ENSP00000494205.1:p.Ser510= | |
| ENST00000646562.1:c.*1493G>A | ENSP00000496087.1:n.*1493G>A | |
| ENST00000647468.2:c.1659G>A MANE Select | ENSP00000496731.1:p.Ser553= | |
| ENST00000648111.1:c.*1347G>A | ENSP00000497275.1:n.*1347G>A | |
| ENST00000367101.5:c.*107G>A | ENSP00000356068.1:n.*107G>A | |
| ENST00000367104.7:c.1659G>A | ENSP00000356071.3:p.Ser553= | |
| ENST00000435180.5:c.384G>A | ENSP00000391168.1:p.Ser128= | |
| ENST00000606965.5:c.*220G>A | ENSP00000475808.1:n.*220G>A | |
| ENST00000607071.5:c.*1593G>A | ENSP00000475855.1:n.*1593G>A | |
| ENST00000607742.5:c.*2937G>A | ENSP00000475523.1:n.*2937G>A | |
| NM_032861.3:c.1659G>A | NP_116250.3:p.Ser553= | |
| NR_073096.1:n.1592G>A | ||
| XM_006715586.1:c.1449G>A | XP_006715649.1:p.Ser483= | |
| XM_011536196.1:c.1638G>A | XP_011534498.1:p.Ser546= | |
| XM_011536197.1:c.1545G>A | XP_011534499.1:p.Ser515= | |
| XM_011536198.1:c.1449G>A | XP_011534500.1:p.Ser483= | |
| XM_006715586.3:c.1449G>A | XP_006715649.1:p.Ser483= | |
| XM_011536196.3:c.1638G>A | XP_011534498.1:p.Ser546= | |
| XM_011536198.3:c.1449G>A | XP_011534500.1:p.Ser483= | |
| XM_024446573.1:c.1659G>A | XP_024302341.1:p.Ser553= | |
| XR_001743697.2:n.1690G>A | ||
| XR_942606.2:n.1741G>A | ||
| NM_032861.4:c.1659G>A MANE Select | NP_116250.3:p.Ser553= | |
| NR_073096.2:n.1574G>A |