Linked Data
ClinVar Variation Id:
2093875
ClinVar RCV Id:
RCV003021052
dbSNP Id:
rs1311973095
gnomAD v2:
3-38888284-T-C
gnomAD v3:
3-38846793-T-C
gnomAD v4:
3-38846793-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846793T>C , CM000665.2:g.38846793T>C | GRCh38 |
| NC_000003.11:g.38888284T>C , CM000665.1:g.38888284T>C | GRCh37 |
| NC_000003.10:g.38863288T>C | NCBI36 |
| NG_033859.1:g.108769A>G | |
| NG_033859.2:g.210194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5277A>G MANE Select | ENSP00000307599.3:p.Gln1759= | |
| ENST00000668754.1:c.5277A>G | ENSP00000499569.1:p.Gln1759= | |
| ENST00000675223.1:c.5356A>G | ENSP00000502481.1:n.5356A>G | |
| ENST00000675672.1:c.5331A>G | ENSP00000502446.1:n.5331A>G | |
| ENST00000675892.1:c.5097A>G | ENSP00000502318.1:p.Gln1699= | |
| ENST00000676045.1:c.5321A>G | ENSP00000501685.1:n.5321A>G | |
| ENST00000676176.1:c.4896A>G | ENSP00000501891.1:p.Gln1632= | |
| ENST00000302328.7:c.5277A>G | ENSP00000307599.3:p.Gln1759= | |
| ENST00000456224.7:c.5163A>G | ENSP00000416757.3:p.Gln1721= | |
| NM_001287223.1:c.5277A>G | NP_001274152.1:p.Gln1759= | |
| NM_014139.2:c.5277A>G | NP_054858.2:p.Gln1759= | |
| XM_011533320.1:c.5277A>G | XP_011531622.1:p.Gln1759= | |
| XM_011533321.1:c.4614A>G | XP_011531623.1:p.Gln1538= | |
| XM_011533322.1:c.3825A>G | XP_011531624.1:p.Gln1275= | |
| NM_001349253.1:c.5277A>G | NP_001336182.1:p.Gln1759= | |
| XM_011533321.2:c.4614A>G | XP_011531623.1:p.Gln1538= | |
| XM_017005647.1:c.5652A>G | XP_016861136.1:p.Gln1884= | |
| XM_017005648.1:c.5079A>G | XP_016861137.1:p.Gln1693= | |
| XM_017005650.1:c.5277A>G | XP_016861139.1:p.Gln1759= | |
| XM_017005651.1:c.5004A>G | XP_016861140.1:p.Gln1668= | |
| XM_017005653.1:c.3681A>G | XP_016861142.1:p.Gln1227= | |
| NM_001349253.2:c.5277A>G MANE Select | NP_001336182.1:p.Gln1759= | |
| NM_014139.3:c.5277A>G | NP_054858.2:p.Gln1759= |