Linked Data
ClinVar Variation Id:
760683
ClinVar RCV Id:
RCV000938662
dbSNP Id:
rs191208250
ExAC:
6:158567937 T / C
gnomAD v2:
6-158567937-T-C
gnomAD v3:
6-158146905-T-C
gnomAD v4:
6-158146905-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158146905T>C , CM000668.2:g.158146905T>C | GRCh38 |
| NC_000006.11:g.158567937T>C , CM000668.1:g.158567937T>C | GRCh37 |
| NC_000006.10:g.158487925T>C | NCBI36 |
| NG_032889.1:g.26376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*198A>G | ENSP00000475855.1:n.*198A>G | |
| ENST00000642244.1:c.274A>G | ENSP00000493554.1:p.Ser92Gly | |
| ENST00000642903.1:c.364A>G | ENSP00000493559.1:p.Ser122Gly | |
| ENST00000643093.1:n.414A>G | ||
| ENST00000644972.1:c.364A>G | ENSP00000496451.1:p.Ser122Gly | |
| ENST00000645077.1:c.*198A>G | ENSP00000496113.1:n.*198A>G | |
| ENST00000645172.1:c.*189+1960A>G | ENSP00000495367.1:n.*189+1960A>G | |
| ENST00000646190.1:n.1595A>G | ||
| ENST00000646208.1:c.100A>G | ENSP00000493723.1:p.Ser34Gly | |
| ENST00000646410.1:c.235A>G | ENSP00000494205.1:p.Ser79Gly | |
| ENST00000646562.1:c.*198A>G | ENSP00000496087.1:n.*198A>G | |
| ENST00000647468.2:c.364A>G MANE Select | ENSP00000496731.1:p.Ser122Gly | |
| ENST00000648111.1:c.*8A>G | ENSP00000497275.1:n.*8A>G | |
| ENST00000367101.5:c.364A>G | ENSP00000356068.1:p.Ser122Gly | |
| ENST00000367104.7:c.364A>G | ENSP00000356071.3:p.Ser122Gly | |
| ENST00000606965.5:c.364A>G | ENSP00000475808.1:p.Ser122Gly | |
| ENST00000607000.1:c.364A>G | ENSP00000475788.1:p.Ser122Gly | |
| ENST00000607071.5:c.*198A>G | ENSP00000475855.1:n.*198A>G | |
| ENST00000607742.5:c.*198A>G | ENSP00000475523.1:n.*198A>G | |
| NM_032861.3:c.364A>G | NP_116250.3:p.Ser122Gly | |
| NR_073096.1:n.506A>G | ||
| XM_006715586.1:c.154A>G | XP_006715649.1:p.Ser52Gly | |
| XM_011536196.1:c.343A>G | XP_011534498.1:p.Ser115Gly | |
| XM_011536197.1:c.364A>G | XP_011534499.1:p.Ser122Gly | |
| XM_011536198.1:c.154A>G | XP_011534500.1:p.Ser52Gly | |
| XR_942606.1:n.365A>G | ||
| XM_006715586.3:c.154A>G | XP_006715649.1:p.Ser52Gly | |
| XM_011536196.3:c.343A>G | XP_011534498.1:p.Ser115Gly | |
| XM_011536198.3:c.154A>G | XP_011534500.1:p.Ser52Gly | |
| XM_024446573.1:c.364A>G | XP_024302341.1:p.Ser122Gly | |
| XR_001743697.2:n.445A>G | ||
| XR_942606.2:n.496A>G | ||
| NM_032861.4:c.364A>G MANE Select | NP_116250.3:p.Ser122Gly | |
| NR_073096.2:n.488A>G |