Linked Data
ClinVar Variation Id:
3175968
ClinVar RCV Id:
RCV004469777
dbSNP Id:
rs762798194
ExAC:
11:78369314 C / T
gnomAD v2:
11-78369314-C-T
gnomAD v4:
11-78658269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78658269C>T , CM000673.2:g.78658269C>T | GRCh38 |
| NC_000011.9:g.78369314C>T , CM000673.1:g.78369314C>T | GRCh37 |
| NC_000011.8:g.78046962C>T | NCBI36 |
| NG_051803.1:g.787383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.8099G>A MANE Select | ENSP00000278550.7:p.Arg2700His | |
| ENST00000278550.11:c.8099G>A | ENSP00000278550.7:p.Arg2700His | |
| ENST00000530738.1:c.2801-215G>A | ENSP00000431711.1:n.2801-215G>A | |
| ENST00000612046.4:c.8099G>A | ENSP00000483150.1:p.Arg2700His | |
| NM_001098816.2:c.8099G>A | NP_001092286.2:p.Arg2700His | |
| XM_011544924.1:c.8147G>A | XP_011543226.1:p.Arg2716His | |
| XM_011544925.1:c.8147G>A | XP_011543227.1:p.Arg2716His | |
| XM_011544927.1:c.8126G>A | XP_011543229.1:p.Arg2709His | |
| XM_011544928.1:c.8072G>A | XP_011543230.1:p.Arg2691His | |
| XM_011544929.1:c.8048G>A | XP_011543231.1:p.Arg2683His | |
| XM_011544930.1:c.7943G>A | XP_011543232.1:p.Arg2648His | |
| XM_011544931.1:c.6986G>A | XP_011543233.1:p.Arg2329His | |
| XM_011544932.1:c.5600G>A | XP_011543234.1:p.Arg1867His | |
| XM_011544933.1:c.5543G>A | XP_011543235.1:p.Arg1848His | |
| XM_011544934.1:c.3998G>A | XP_011543236.1:p.Arg1333His | |
| XM_011544933.3:c.5543G>A | XP_011543235.1:p.Arg1848His | |
| XM_017017525.1:c.8174G>A | XP_016873014.1:p.Arg2725His | |
| XM_017017526.1:c.8099G>A | XP_016873015.1:p.Arg2700His | |
| NM_001098816.3:c.8099G>A MANE Select | NP_001092286.2:p.Arg2700His |