Linked Data
ClinVar Variation Id:
206532
dbSNP Id:
rs368587966
ExAC:
15:89864454 T / C
gnomAD v2:
15-89864454-T-C
gnomAD v3:
15-89321223-T-C
gnomAD v4:
15-89321223-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321223T>C , CM000677.2:g.89321223T>C | GRCh38 |
| NC_000015.9:g.89864454T>C , CM000677.1:g.89864454T>C | GRCh37 |
| NC_000015.8:g.87665458T>C | NCBI36 |
| NG_008218.1:g.18573A>G | |
| NG_008218.2:g.18573A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2636A>G | ENSP00000516154.1:p.Gln879Arg | |
| ENST00000268124.11:c.2636A>G MANE Select | ENSP00000268124.5:p.Gln879Arg | |
| ENST00000530292.3:c.2237A>G | ENSP00000432885.2:p.Gln746Arg | |
| ENST00000635986.2:c.2636A>G | ENSP00000490653.2:p.Gln879Arg | |
| ENST00000636774.1:c.*1203A>G | ENSP00000489799.1:n.*1203A>G | |
| ENST00000637238.1:c.1333A>G | ENSP00000490756.1:n.1333A>G | |
| ENST00000637264.1:c.1708A>G | ||
| ENST00000666746.1:c.2213A>G | ||
| ENST00000670281.1:c.800+739A>G | ENSP00000499709.1:n.800+739A>G | |
| ENST00000672071.1:n.2834A>G | ||
| ENST00000672923.2:n.2578A>G | ||
| ENST00000268124.9:c.2636A>G | ENSP00000268124.5:p.Gln879Arg | |
| ENST00000442287.6:c.2636A>G | ENSP00000399851.2:p.Gln879Arg | |
| ENST00000528881.2:c.233A>G | ||
| ENST00000530715.5:c.186-354A>G | ENSP00000431395.1:n.186-354A>G | |
| ENST00000631044.2:c.*2060A>G | ENSP00000486730.1:n.*2060A>G | |
| NM_001126131.1:c.2636A>G | NP_001119603.1:p.Gln879Arg | |
| NM_002693.2:c.2636A>G | NP_002684.1:p.Gln879Arg | |
| NM_001126131.2:c.2636A>G | NP_001119603.1:p.Gln879Arg | |
| NM_002693.3:c.2636A>G MANE Select | NP_002684.1:p.Gln879Arg |