Linked Data
ClinVar Variation Id:
206529
dbSNP Id:
rs796052888
gnomAD v2:
15-89865007-C-T
gnomAD v3:
15-89321776-C-T
gnomAD v4:
15-89321776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321776C>T , CM000677.2:g.89321776C>T | GRCh38 |
| NC_000015.9:g.89865007C>T , CM000677.1:g.89865007C>T | GRCh37 |
| NC_000015.8:g.87666011C>T | NCBI36 |
| NG_008218.1:g.18020G>A | |
| NG_008218.2:g.18020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2558G>A | ENSP00000516154.1:p.Arg853Gln | |
| ENST00000268124.11:c.2558G>A MANE Select | ENSP00000268124.5:p.Arg853Gln | |
| ENST00000530292.3:c.2159G>A | ENSP00000432885.2:p.Arg720Gln | |
| ENST00000635986.2:c.2558G>A | ENSP00000490653.2:p.Arg853Gln | |
| ENST00000636774.1:c.*1125G>A | ENSP00000489799.1:n.*1125G>A | |
| ENST00000637238.1:c.1255G>A | ENSP00000490756.1:n.1255G>A | |
| ENST00000637264.1:c.1630G>A | ||
| ENST00000666746.1:c.2135G>A | ||
| ENST00000670281.1:c.800+186G>A | ENSP00000499709.1:n.800+186G>A | |
| ENST00000672071.1:n.2756G>A | ||
| ENST00000672923.2:n.2500G>A | ||
| ENST00000268124.9:c.2558G>A | ENSP00000268124.5:p.Arg853Gln | |
| ENST00000442287.6:c.2558G>A | ENSP00000399851.2:p.Arg853Gln | |
| ENST00000528881.2:c.196-516G>A | ||
| ENST00000530715.5:c.186-907G>A | ENSP00000431395.1:n.186-907G>A | |
| ENST00000532584.5:n.707G>A | ||
| ENST00000631044.2:c.*1982G>A | ENSP00000486730.1:n.*1982G>A | |
| NM_001126131.1:c.2558G>A | NP_001119603.1:p.Arg853Gln | |
| NM_002693.2:c.2558G>A | NP_002684.1:p.Arg853Gln | |
| NM_001126131.2:c.2558G>A | NP_001119603.1:p.Arg853Gln | |
| NM_002693.3:c.2558G>A MANE Select | NP_002684.1:p.Arg853Gln |