Linked Data
ClinVar Variation Id:
392246
ClinVar RCV Id:
RCV000435263
dbSNP Id:
rs1057524408
gnomAD v2:
X-70510590-C-T
gnomAD v4:
X-71290740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71290740C>T , CM000685.2:g.71290740C>T | GRCh38 |
| NC_000023.10:g.70510590C>T , CM000685.1:g.70510590C>T | GRCh37 |
| NC_000023.9:g.70427315C>T | NCBI36 |
| NG_046742.1:g.12549C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276079.13:c.103C>T MANE Select | ENSP00000276079.8:p.Gln35Ter | |
| ENST00000373856.8:c.103C>T | ENSP00000362963.4:p.Gln35Ter | |
| ENST00000420903.6:c.103C>T | ENSP00000410299.2:p.Gln35Ter | |
| ENST00000450092.6:c.103C>T | ENSP00000415777.2:p.Gln35Ter | |
| ENST00000454976.2:c.103C>T | ENSP00000406673.2:p.Gln35Ter | |
| ENST00000471419.7:n.228C>T | ||
| ENST00000473525.2:n.281C>T | ||
| ENST00000676495.1:n.281C>T | ||
| ENST00000676499.1:n.281C>T | ||
| ENST00000676797.1:c.-165C>T | ENSP00000503920.1:n.-165C>T | |
| ENST00000677014.1:c.103C>T | ENSP00000503813.1:p.Gln35Ter | |
| ENST00000677218.1:n.370C>T | ||
| ENST00000677245.1:c.103C>T | ENSP00000503929.1:p.Gln35Ter | |
| ENST00000677274.1:c.103C>T | ENSP00000504314.1:p.Gln35Ter | |
| ENST00000677446.1:c.103C>T | ENSP00000503031.1:p.Gln35Ter | |
| ENST00000677612.1:c.103C>T | ENSP00000504351.1:p.Gln35Ter | |
| ENST00000677766.1:n.281C>T | ||
| ENST00000677826.1:n.281C>T | ||
| ENST00000677879.1:c.103C>T | ENSP00000504090.1:p.Gln35Ter | |
| ENST00000677977.1:n.228C>T | ||
| ENST00000678231.1:c.103C>T | ENSP00000503233.1:p.Gln35Ter | |
| ENST00000678323.1:n.281C>T | ||
| ENST00000678335.1:c.103C>T | ENSP00000503769.1:p.Gln35Ter | |
| ENST00000678437.1:c.103C>T | ENSP00000504007.1:p.Gln35Ter | |
| ENST00000678660.1:c.103C>T | ENSP00000504665.1:p.Gln35Ter | |
| ENST00000678830.1:c.103C>T | ENSP00000504263.1:p.Gln35Ter | |
| ENST00000679029.1:c.103C>T | ENSP00000504193.1:p.Gln35Ter | |
| ENST00000679062.1:n.190C>T | ||
| ENST00000679254.1:n.278C>T | ||
| ENST00000679267.1:n.281C>T | ||
| ENST00000276079.12:c.103C>T | ENSP00000276079.8:p.Gln35Ter | |
| ENST00000373841.5:c.103C>T | ENSP00000362947.1:p.Gln35Ter | |
| ENST00000373856.7:c.103C>T | ENSP00000362963.3:p.Gln35Ter | |
| ENST00000413858.5:c.103C>T | ENSP00000413350.1:p.Gln35Ter | |
| ENST00000420903.5:c.103C>T | ENSP00000410299.1:p.Gln35Ter | |
| ENST00000450092.5:c.103C>T | ENSP00000415777.1:p.Gln35Ter | |
| ENST00000454976.1:c.103C>T | ENSP00000406673.1:p.Gln35Ter | |
| ENST00000472185.1:n.60+6334C>T | ||
| ENST00000474431.5:n.70+7019C>T | ||
| ENST00000486613.6:n.197C>T | ||
| ENST00000535149.5:c.-113-1039C>T | ENSP00000441364.1:n.-113-1039C>T | |
| NM_001145408.1:c.103C>T | NP_001138880.1:p.Gln35Ter | |
| NM_001145409.1:c.103C>T | NP_001138881.1:p.Gln35Ter | |
| NM_001145410.1:c.-113-1039C>T | NP_001138882.1:n.-113-1039C>T | |
| NM_007363.4:c.103C>T | NP_031389.3:p.Gln35Ter | |
| NM_007363.5:c.103C>T MANE Select | NP_031389.3:p.Gln35Ter | |
| NM_001145408.2:c.103C>T | NP_001138880.1:p.Gln35Ter | |
| NM_001145409.2:c.103C>T | NP_001138881.1:p.Gln35Ter | |
| NM_001145410.2:c.-113-1039C>T | NP_001138882.1:n.-113-1039C>T |