Linked Data
ClinVar Variation Id:
206522
dbSNP Id:
rs775168496
ExAC:
15:89866031 G / A
gnomAD v2:
15-89866031-G-A
gnomAD v3:
15-89322800-G-A
gnomAD v4:
15-89322800-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89322800G>A , CM000677.2:g.89322800G>A | GRCh38 |
| NC_000015.9:g.89866031G>A , CM000677.1:g.89866031G>A | GRCh37 |
| NC_000015.8:g.87667035G>A | NCBI36 |
| NG_008218.1:g.16996C>T | |
| NG_008218.2:g.16996C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2368C>T | ENSP00000516154.1:p.Arg790Cys | |
| ENST00000268124.11:c.2368C>T MANE Select | ENSP00000268124.5:p.Arg790Cys | |
| ENST00000530292.3:c.1969C>T | ENSP00000432885.2:p.Arg657Cys | |
| ENST00000635986.2:c.2368C>T | ENSP00000490653.2:p.Arg790Cys | |
| ENST00000636774.1:c.*935C>T | ENSP00000489799.1:n.*935C>T | |
| ENST00000637238.1:c.1065C>T | ENSP00000490756.1:n.1065C>T | |
| ENST00000637264.1:c.1440C>T | ||
| ENST00000666746.1:c.1945C>T | ||
| ENST00000670281.1:c.688C>T | ENSP00000499709.1:p.Arg230Cys | |
| ENST00000672071.1:n.2566C>T | ||
| ENST00000672923.2:n.2368+604C>T | ||
| ENST00000268124.9:c.2368C>T | ENSP00000268124.5:p.Arg790Cys | |
| ENST00000442287.6:c.2368C>T | ENSP00000399851.2:p.Arg790Cys | |
| ENST00000526314.2:c.642C>T | ||
| ENST00000528881.2:c.137C>T | ||
| ENST00000530715.5:c.127C>T | ENSP00000431395.1:p.Arg43Cys | |
| ENST00000532584.5:n.467+604C>T | ||
| ENST00000631044.2:c.*1792C>T | ENSP00000486730.1:n.*1792C>T | |
| NM_001126131.1:c.2368C>T | NP_001119603.1:p.Arg790Cys | |
| NM_002693.2:c.2368C>T | NP_002684.1:p.Arg790Cys | |
| NM_001126131.2:c.2368C>T | NP_001119603.1:p.Arg790Cys | |
| NM_002693.3:c.2368C>T MANE Select | NP_002684.1:p.Arg790Cys |