Linked Data
ClinVar Variation Id:
206515
dbSNP Id:
rs760305786
ExAC:
15:89866705 T / C
gnomAD v2:
15-89866705-T-C
gnomAD v3:
15-89323474-T-C
gnomAD v4:
15-89323474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323474T>C , CM000677.2:g.89323474T>C | GRCh38 |
| NC_000015.9:g.89866705T>C , CM000677.1:g.89866705T>C | GRCh37 |
| NC_000015.8:g.87667709T>C | NCBI36 |
| NG_008218.1:g.16322A>G | |
| NG_008218.2:g.16322A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2195A>G | ENSP00000516154.1:p.Tyr732Cys | |
| ENST00000268124.11:c.2195A>G MANE Select | ENSP00000268124.5:p.Tyr732Cys | |
| ENST00000530292.3:c.1796A>G | ENSP00000432885.2:p.Tyr599Cys | |
| ENST00000635986.2:c.2195A>G | ENSP00000490653.2:p.Tyr732Cys | |
| ENST00000636774.1:c.*762A>G | ENSP00000489799.1:n.*762A>G | |
| ENST00000637238.1:c.892A>G | ENSP00000490756.1:n.892A>G | |
| ENST00000637264.1:c.1267A>G | ||
| ENST00000666746.1:c.1772A>G | ||
| ENST00000670281.1:c.515A>G | ENSP00000499709.1:p.Tyr172Cys | |
| ENST00000672071.1:n.2393A>G | ||
| ENST00000672923.2:n.2298A>G | ||
| ENST00000268124.9:c.2195A>G | ENSP00000268124.5:p.Tyr732Cys | |
| ENST00000442287.6:c.2195A>G | ENSP00000399851.2:p.Tyr732Cys | |
| ENST00000526314.2:c.539+341A>G | ||
| ENST00000526398.1:c.344A>G | ||
| ENST00000532584.5:n.397A>G | ||
| ENST00000631044.2:c.*1619A>G | ENSP00000486730.1:n.*1619A>G | |
| NM_001126131.1:c.2195A>G | NP_001119603.1:p.Tyr732Cys | |
| NM_002693.2:c.2195A>G | NP_002684.1:p.Tyr732Cys | |
| NM_001126131.2:c.2195A>G | NP_001119603.1:p.Tyr732Cys | |
| NM_002693.3:c.2195A>G MANE Select | NP_002684.1:p.Tyr732Cys |