Linked Data
ClinVar Variation Id:
2475540
ClinVar RCV Id:
RCV004266860
dbSNP Id:
rs754703622
ExAC:
11:78380537 C / T
gnomAD v2:
11-78380537-C-T
gnomAD v3:
11-78669492-C-T
gnomAD v4:
11-78669492-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78669492C>T , CM000673.2:g.78669492C>T | GRCh38 |
| NC_000011.9:g.78380537C>T , CM000673.1:g.78380537C>T | GRCh37 |
| NC_000011.8:g.78058185C>T | NCBI36 |
| NG_051803.1:g.776160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.6853G>A MANE Select | ENSP00000278550.7:p.Gly2285Ser | |
| ENST00000278550.11:c.6853G>A | ENSP00000278550.7:p.Gly2285Ser | |
| ENST00000530738.1:c.2245G>A | ENSP00000431711.1:p.Gly749Ser | |
| ENST00000612046.4:c.6853G>A | ENSP00000483150.1:p.Gly2285Ser | |
| NM_001098816.2:c.6853G>A | NP_001092286.2:p.Gly2285Ser | |
| XM_011544924.1:c.6901G>A | XP_011543226.1:p.Gly2301Ser | |
| XM_011544925.1:c.6901G>A | XP_011543227.1:p.Gly2301Ser | |
| XM_011544927.1:c.6880G>A | XP_011543229.1:p.Gly2294Ser | |
| XM_011544928.1:c.6826G>A | XP_011543230.1:p.Gly2276Ser | |
| XM_011544929.1:c.6802G>A | XP_011543231.1:p.Gly2268Ser | |
| XM_011544930.1:c.6697G>A | XP_011543232.1:p.Gly2233Ser | |
| XM_011544931.1:c.5740G>A | XP_011543233.1:p.Gly1914Ser | |
| XM_011544932.1:c.4354G>A | XP_011543234.1:p.Gly1452Ser | |
| XM_011544933.1:c.4297G>A | XP_011543235.1:p.Gly1433Ser | |
| XM_011544934.1:c.2752G>A | XP_011543236.1:p.Gly918Ser | |
| XM_011544933.3:c.4297G>A | XP_011543235.1:p.Gly1433Ser | |
| XM_017017525.1:c.6928G>A | XP_016873014.1:p.Gly2310Ser | |
| XM_017017526.1:c.6853G>A | XP_016873015.1:p.Gly2285Ser | |
| NM_001098816.3:c.6853G>A MANE Select | NP_001092286.2:p.Gly2285Ser |