Linked Data
ClinVar Variation Id:
289708
dbSNP Id:
rs181106858
ExAC:
11:2594174 C / A
gnomAD v2:
11-2594174-C-A
gnomAD v3:
11-2572944-C-A
gnomAD v4:
11-2572944-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572944C>A , CM000673.2:g.2572944C>A | GRCh38 |
| NC_000011.9:g.2594174C>A , CM000673.1:g.2594174C>A | GRCh37 |
| NC_000011.8:g.2550750C>A | NCBI36 |
| NG_008935.1:g.132954C>A , LRG_287:g.132954C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.618C>A | ENSP00000434560.2:p.Arg206= | |
| ENST00000646564.2:c.478-10491C>A | ENSP00000495806.2:n.478-10491C>A | |
| ENST00000155840.12:c.879C>A MANE Select | ENSP00000155840.2:p.Arg293= | |
| ENST00000335475.6:c.498C>A | ENSP00000334497.5:p.Arg166= | |
| ENST00000646564.1:c.124-10491C>A | ENSP00000495806.1:n.124-10491C>A | |
| ENST00000155840.9:c.879C>A | ENSP00000155840.2:p.Arg293= | |
| ENST00000335475.5:c.498C>A | ENSP00000334497.5:p.Arg166= | |
| NM_000218.2:c.879C>A , LRG_287t1:c.879C>A | NP_000209.2:p.Arg293= | |
| NM_181798.1:c.498C>A , LRG_287t2:c.498C>A | NP_861463.1:p.Arg166= | |
| NM_000218.3:c.879C>A MANE Select | NP_000209.2:p.Arg293= |