Linked Data
ClinVar Variation Id:
185703
dbSNP Id:
rs547919101
ExAC:
19:1226511 C / G
gnomAD v2:
19-1226511-C-G
gnomAD v3:
19-1226512-C-G
gnomAD v4:
19-1226512-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226512C>G , CM000681.2:g.1226512C>G | GRCh38 |
| NC_000019.9:g.1226511C>G , CM000681.1:g.1226511C>G | GRCh37 |
| NC_000019.8:g.1177511C>G | NCBI36 |
| NG_007460.2:g.42106C>G , LRG_319:g.42106C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2768C>G | ENSP00000490268.2:n.*2768C>G | |
| ENST00000585748.3:c.795C>G | ENSP00000477641.2:p.Ala265= | |
| ENST00000585851.2:c.993C>G | ENSP00000467912.2:p.Ala331= | |
| ENST00000326873.12:c.1167C>G MANE Select | ENSP00000324856.6:p.Ala389= | |
| ENST00000326873.11:c.1167C>G | ENSP00000324856.6:p.Ala389= | |
| ENST00000585465.2:n.2900C>G | ||
| ENST00000586243.5:c.1167C>G | ENSP00000467240.2:p.Ala389= | |
| ENST00000589152.5:n.1865C>G | ||
| NM_000455.4:c.1167C>G , LRG_319t1:c.1167C>G | NP_000446.1:p.Ala389= | |
| XM_005259617.1:c.1162C>G | XP_005259674.1:p.Arg388Gly | |
| XM_011528209.1:c.940C>G | XP_011526511.1:p.Arg314Gly | |
| XM_005259617.3:c.1162C>G | XP_005259674.1:p.Arg388Gly | |
| XM_011528209.2:c.940C>G | XP_011526511.1:p.Arg314Gly | |
| XR_001753738.2:n.1973C>G | ||
| XR_001753740.2:n.1943C>G | ||
| NM_000455.5:c.1167C>G MANE Select | NP_000446.1:p.Ala389= |