Linked Data
ClinVar Variation Id:
2642207
ClinVar RCV Id:
RCV003390104
dbSNP Id:
rs376296325
ExAC:
11:78369801 G / A
gnomAD v2:
11-78369801-G-A
gnomAD v3:
11-78658756-G-A
gnomAD v4:
11-78658756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78658756G>A , CM000673.2:g.78658756G>A | GRCh38 |
| NC_000011.9:g.78369801G>A , CM000673.1:g.78369801G>A | GRCh37 |
| NC_000011.8:g.78047449G>A | NCBI36 |
| NG_051803.1:g.786896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.7612C>T MANE Select | ENSP00000278550.7:p.Arg2538Trp | |
| ENST00000278550.11:c.7612C>T | ENSP00000278550.7:p.Arg2538Trp | |
| ENST00000530738.1:c.2801-702C>T | ENSP00000431711.1:n.2801-702C>T | |
| ENST00000612046.4:c.7612C>T | ENSP00000483150.1:p.Arg2538Trp | |
| NM_001098816.2:c.7612C>T | NP_001092286.2:p.Arg2538Trp | |
| XM_011544924.1:c.7660C>T | XP_011543226.1:p.Arg2554Trp | |
| XM_011544925.1:c.7660C>T | XP_011543227.1:p.Arg2554Trp | |
| XM_011544927.1:c.7639C>T | XP_011543229.1:p.Arg2547Trp | |
| XM_011544928.1:c.7585C>T | XP_011543230.1:p.Arg2529Trp | |
| XM_011544929.1:c.7561C>T | XP_011543231.1:p.Arg2521Trp | |
| XM_011544930.1:c.7456C>T | XP_011543232.1:p.Arg2486Trp | |
| XM_011544931.1:c.6499C>T | XP_011543233.1:p.Arg2167Trp | |
| XM_011544932.1:c.5113C>T | XP_011543234.1:p.Arg1705Trp | |
| XM_011544933.1:c.5056C>T | XP_011543235.1:p.Arg1686Trp | |
| XM_011544934.1:c.3511C>T | XP_011543236.1:p.Arg1171Trp | |
| XM_011544933.3:c.5056C>T | XP_011543235.1:p.Arg1686Trp | |
| XM_017017525.1:c.7687C>T | XP_016873014.1:p.Arg2563Trp | |
| XM_017017526.1:c.7612C>T | XP_016873015.1:p.Arg2538Trp | |
| NM_001098816.3:c.7612C>T MANE Select | NP_001092286.2:p.Arg2538Trp |