Linked Data
ClinVar Variation Id:
162036
ClinVar RCV Id:
RCV000149900
dbSNP Id:
rs724159992
gnomAD v3:
16-8750498-G-A
gnomAD v4:
16-8750498-G-A
COSMIC:
COSM472202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8750498G>A , CM000678.2:g.8750498G>A | GRCh38 |
| NC_000016.9:g.8844355G>A , CM000678.1:g.8844355G>A | GRCh37 |
| NC_000016.8:g.8751856G>A | NCBI36 |
| NG_008432.1:g.80912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268251.13:c.275G>A MANE Select | ENSP00000268251.8:p.Arg92Gln | |
| ENST00000268251.12:c.275G>A | ENSP00000268251.8:p.Arg92Gln | |
| ENST00000396600.6:c.275G>A | ENSP00000379845.2:p.Arg92Gln | |
| ENST00000425191.6:c.275G>A | ENSP00000411916.2:p.Arg92Gln | |
| ENST00000562115.1:c.275G>A | ENSP00000455502.1:p.Arg92Gln | |
| ENST00000565671.1:n.204G>A | ||
| ENST00000566590.5:c.*15G>A | ENSP00000455198.1:n.*15G>A | |
| ENST00000567812.5:c.320G>A | ENSP00000456330.1:p.Arg107Gln | |
| ENST00000569156.5:c.275G>A | ENSP00000454963.1:p.Arg92Gln | |
| NM_000663.4:c.275G>A | NP_000654.2:p.Arg92Gln | |
| NM_001127448.1:c.275G>A | NP_001120920.1:p.Arg92Gln | |
| NM_020686.5:c.275G>A | NP_065737.2:p.Arg92Gln | |
| XM_011522400.1:c.275G>A | XP_011520702.1:p.Arg92Gln | |
| XM_011522401.1:c.275G>A | XP_011520703.1:p.Arg92Gln | |
| XM_011522400.2:c.275G>A | XP_011520702.1:p.Arg92Gln | |
| XM_011522401.2:c.275G>A | XP_011520703.1:p.Arg92Gln | |
| NM_020686.6:c.275G>A MANE Select | NP_065737.2:p.Arg92Gln | |
| NM_001127448.2:c.275G>A | NP_001120920.1:p.Arg92Gln | |
| NM_000663.5:c.275G>A | NP_000654.2:p.Arg92Gln | |
| NM_001386600.1:c.275G>A | NP_001373529.1:p.Arg92Gln | |
| NM_001386601.1:c.275G>A | NP_001373530.1:p.Arg92Gln | |
| NM_001386602.1:c.275G>A | NP_001373531.1:p.Arg92Gln | |
| NM_001386603.1:c.275G>A | NP_001373532.1:p.Arg92Gln | |
| NM_001386604.1:c.275G>A | NP_001373533.1:p.Arg92Gln | |
| NM_001386605.1:c.275G>A | NP_001373534.1:p.Arg92Gln | |
| NM_001386606.1:c.275G>A | NP_001373535.1:p.Arg92Gln | |
| NM_001386607.1:c.275G>A | NP_001373536.1:p.Arg92Gln | |
| NM_001386608.1:c.275G>A | NP_001373537.1:p.Arg92Gln | |
| NM_001386609.1:c.275G>A | NP_001373538.1:p.Arg92Gln | |
| NM_001386610.1:c.140G>A | NP_001373539.1:p.Arg47Gln | |
| NM_001386611.1:c.140G>A | NP_001373540.1:p.Arg47Gln | |
| NM_001386612.1:c.140G>A | NP_001373541.1:p.Arg47Gln | |
| NM_001386613.1:c.140G>A | NP_001373542.1:p.Arg47Gln | |
| NM_001386614.1:c.71-7259G>A | NP_001373543.1:n.71-7259G>A | |
| NM_001386615.1:c.275G>A | NP_001373544.1:p.Arg92Gln | |
| NM_001386616.1:c.275G>A | NP_001373545.1:p.Arg92Gln |