Linked Data
ClinVar Variation Id:
446407
ClinVar RCV Id:
RCV000515616
dbSNP Id:
rs1554261079
gnomAD v4:
6-158114896-C-T
PubMed:
PMID:28778788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114896C>T , CM000668.2:g.158114896C>T | GRCh38 |
| NC_000006.11:g.158535928C>T , CM000668.1:g.158535928C>T | GRCh37 |
| NC_000006.10:g.158455916C>T | NCBI36 |
| NG_032889.1:g.58385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.789G>A | ENSP00000391168.2:n.789G>A | |
| ENST00000607071.6:c.*1297G>A | ENSP00000475855.1:n.*1297G>A | |
| ENST00000642244.1:c.1487G>A | ENSP00000493554.1:p.Gly496Glu | |
| ENST00000642903.1:c.1577G>A | ENSP00000493559.1:p.Gly526Glu | |
| ENST00000644972.1:c.1577G>A | ENSP00000496451.1:p.Gly526Glu | |
| ENST00000645077.1:c.*1198G>A | ENSP00000496113.1:n.*1198G>A | |
| ENST00000645172.1:c.*1279G>A | ENSP00000495367.1:n.*1279G>A | |
| ENST00000646190.1:n.2908G>A | ||
| ENST00000646208.1:c.1313G>A | ENSP00000493723.1:p.Gly438Glu | |
| ENST00000646410.1:c.1448G>A | ENSP00000494205.1:p.Gly483Glu | |
| ENST00000646562.1:c.*1411G>A | ENSP00000496087.1:n.*1411G>A | |
| ENST00000647468.2:c.1577G>A MANE Select | ENSP00000496731.1:p.Gly526Glu | |
| ENST00000648111.1:c.*1265G>A | ENSP00000497275.1:n.*1265G>A | |
| ENST00000367101.5:c.*25G>A | ENSP00000356068.1:n.*25G>A | |
| ENST00000367104.7:c.1577G>A | ENSP00000356071.3:p.Gly526Glu | |
| ENST00000435180.5:c.302G>A | ENSP00000391168.1:p.Gly101Glu | |
| ENST00000606965.5:c.*138G>A | ENSP00000475808.1:n.*138G>A | |
| ENST00000607071.5:c.*1511G>A | ENSP00000475855.1:n.*1511G>A | |
| ENST00000607742.5:c.*2855G>A | ENSP00000475523.1:n.*2855G>A | |
| NM_032861.3:c.1577G>A | NP_116250.3:p.Gly526Glu | |
| NR_073096.1:n.1510G>A | ||
| XM_006715586.1:c.1367G>A | XP_006715649.1:p.Gly456Glu | |
| XM_011536196.1:c.1556G>A | XP_011534498.1:p.Gly519Glu | |
| XM_011536197.1:c.1463G>A | XP_011534499.1:p.Gly488Glu | |
| XM_011536198.1:c.1367G>A | XP_011534500.1:p.Gly456Glu | |
| XM_006715586.3:c.1367G>A | XP_006715649.1:p.Gly456Glu | |
| XM_011536196.3:c.1556G>A | XP_011534498.1:p.Gly519Glu | |
| XM_011536198.3:c.1367G>A | XP_011534500.1:p.Gly456Glu | |
| XM_024446573.1:c.1577G>A | XP_024302341.1:p.Gly526Glu | |
| XR_001743697.2:n.1608G>A | ||
| XR_942606.2:n.1659G>A | ||
| NM_032861.4:c.1577G>A MANE Select | NP_116250.3:p.Gly526Glu | |
| NR_073096.2:n.1492G>A |