Linked Data
ClinVar Variation Id:
373212
dbSNP Id:
rs779723962
ExAC:
15:89864968 C / T
gnomAD v2:
15-89864968-C-T
gnomAD v3:
15-89321737-C-T
gnomAD v4:
15-89321737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321737C>T , CM000677.2:g.89321737C>T | GRCh38 |
| NC_000015.9:g.89864968C>T , CM000677.1:g.89864968C>T | GRCh37 |
| NC_000015.8:g.87665972C>T | NCBI36 |
| NG_008218.1:g.18059G>A | |
| NG_008218.2:g.18059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2597G>A | ENSP00000516154.1:p.Arg866Gln | |
| ENST00000268124.11:c.2597G>A MANE Select | ENSP00000268124.5:p.Arg866Gln | |
| ENST00000530292.3:c.2198G>A | ENSP00000432885.2:p.Arg733Gln | |
| ENST00000635986.2:c.2597G>A | ENSP00000490653.2:p.Arg866Gln | |
| ENST00000636774.1:c.*1164G>A | ENSP00000489799.1:n.*1164G>A | |
| ENST00000637238.1:c.1294G>A | ENSP00000490756.1:n.1294G>A | |
| ENST00000637264.1:c.1669G>A | ||
| ENST00000666746.1:c.2174G>A | ||
| ENST00000670281.1:c.800+225G>A | ENSP00000499709.1:n.800+225G>A | |
| ENST00000672071.1:n.2795G>A | ||
| ENST00000672923.2:n.2539G>A | ||
| ENST00000268124.9:c.2597G>A | ENSP00000268124.5:p.Arg866Gln | |
| ENST00000442287.6:c.2597G>A | ENSP00000399851.2:p.Arg866Gln | |
| ENST00000528881.2:c.196-477G>A | ||
| ENST00000530715.5:c.186-868G>A | ENSP00000431395.1:n.186-868G>A | |
| ENST00000631044.2:c.*2021G>A | ENSP00000486730.1:n.*2021G>A | |
| NM_001126131.1:c.2597G>A | NP_001119603.1:p.Arg866Gln | |
| NM_002693.2:c.2597G>A | NP_002684.1:p.Arg866Gln | |
| NM_001126131.2:c.2597G>A | NP_001119603.1:p.Arg866Gln | |
| NM_002693.3:c.2597G>A MANE Select | NP_002684.1:p.Arg866Gln |