Linked Data
ClinVar Variation Id:
2588550
ClinVar RCV Id:
RCV004340816
dbSNP Id:
rs938188545
gnomAD v2:
11-78369177-C-T
gnomAD v3:
11-78658132-C-T
gnomAD v4:
11-78658132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78658132C>T , CM000673.2:g.78658132C>T | GRCh38 |
| NC_000011.9:g.78369177C>T , CM000673.1:g.78369177C>T | GRCh37 |
| NC_000011.8:g.78046825C>T | NCBI36 |
| NG_051803.1:g.787520G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.8236G>A MANE Select | ENSP00000278550.7:p.Glu2746Lys | |
| ENST00000278550.11:c.8236G>A | ENSP00000278550.7:p.Glu2746Lys | |
| ENST00000530738.1:c.2801-78G>A | ENSP00000431711.1:n.2801-78G>A | |
| ENST00000612046.4:c.8236G>A | ENSP00000483150.1:p.Glu2746Lys | |
| NM_001098816.2:c.8236G>A | NP_001092286.2:p.Glu2746Lys | |
| XM_011544924.1:c.8284G>A | XP_011543226.1:p.Glu2762Lys | |
| XM_011544925.1:c.8284G>A | XP_011543227.1:p.Glu2762Lys | |
| XM_011544927.1:c.8263G>A | XP_011543229.1:p.Glu2755Lys | |
| XM_011544928.1:c.8209G>A | XP_011543230.1:p.Glu2737Lys | |
| XM_011544929.1:c.8185G>A | XP_011543231.1:p.Glu2729Lys | |
| XM_011544930.1:c.8080G>A | XP_011543232.1:p.Glu2694Lys | |
| XM_011544931.1:c.7123G>A | XP_011543233.1:p.Glu2375Lys | |
| XM_011544932.1:c.5737G>A | XP_011543234.1:p.Glu1913Lys | |
| XM_011544933.1:c.5680G>A | XP_011543235.1:p.Glu1894Lys | |
| XM_011544934.1:c.4135G>A | XP_011543236.1:p.Glu1379Lys | |
| XM_011544933.3:c.5680G>A | XP_011543235.1:p.Glu1894Lys | |
| XM_017017525.1:c.8311G>A | XP_016873014.1:p.Glu2771Lys | |
| XM_017017526.1:c.8236G>A | XP_016873015.1:p.Glu2746Lys | |
| NM_001098816.3:c.8236G>A MANE Select | NP_001092286.2:p.Glu2746Lys |