Linked Data
ClinVar Variation Id:
206446
dbSNP Id:
rs146027425
ExAC:
17:46023290 C / T
gnomAD v2:
17-46023290-C-T
gnomAD v3:
17-47945924-C-T
gnomAD v4:
17-47945924-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47945924C>T , CM000679.2:g.47945924C>T | GRCh38 |
| NC_000017.10:g.46023290C>T , CM000679.1:g.46023290C>T | GRCh37 |
| NC_000017.9:g.43378289C>T | NCBI36 |
| NG_008744.1:g.9402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.417+312C>T | ENSP00000225573.5:n.417+312C>T | |
| ENST00000434554.7:c.427C>T | ENSP00000399960.3:p.Arg143Cys | |
| ENST00000582171.6:c.*146C>T | ENSP00000463994.1:n.*146C>T | |
| ENST00000583245.6:n.453C>T | ||
| ENST00000583599.6:c.241C>T | ENSP00000463919.2:p.Arg81Cys | |
| ENST00000584061.6:c.412C>T | ENSP00000463972.2:p.Arg138Cys | |
| ENST00000584806.2:n.215+312C>T | ||
| ENST00000641285.1:n.261C>T | ||
| ENST00000641305.1:n.1647C>T | ||
| ENST00000641323.1:c.*500C>T | ENSP00000492965.1:n.*500C>T | |
| ENST00000641427.1:n.481C>T | ||
| ENST00000641511.1:c.279-399C>T | ||
| ENST00000641703.1:c.197C>T | ENSP00000493219.1:n.197C>T | |
| ENST00000641709.1:c.*303C>T | ENSP00000493349.1:n.*303C>T | |
| ENST00000641856.1:c.*989C>T | ENSP00000493224.1:n.*989C>T | |
| ENST00000642017.2:c.481C>T MANE Select | ENSP00000493302.2:p.Arg161Cys | |
| ENST00000225573.4:c.481C>T | ENSP00000225573.4:p.Arg161Cys | |
| ENST00000434554.6:c.417+312C>T | ENSP00000399960.2:n.417+312C>T | |
| ENST00000582171.5:c.*146C>T | ENSP00000463994.1:n.*146C>T | |
| ENST00000583245.5:c.*500C>T | ENSP00000463520.1:n.*500C>T | |
| ENST00000583599.5:c.241C>T | ENSP00000463919.1:p.Arg81Cys | |
| ENST00000584806.1:n.215+312C>T | ||
| ENST00000585320.5:c.*29-399C>T | ENSP00000462345.1:n.*29-399C>T | |
| NM_018129.3:c.481C>T | NP_060599.1:p.Arg161Cys | |
| XM_005257500.2:c.241C>T | XP_005257557.1:p.Arg81Cys | |
| XM_011524968.1:c.196C>T | XP_011523270.1:p.Arg66Cys | |
| XM_005257500.3:c.241C>T | XP_005257557.1:p.Arg81Cys | |
| XM_011524968.2:c.196C>T | XP_011523270.1:p.Arg66Cys | |
| XM_017024813.1:c.241C>T | XP_016880302.1:p.Arg81Cys | |
| NM_018129.4:c.481C>T MANE Select | NP_060599.1:p.Arg161Cys |