Linked Data
dbSNP Id:
rs1201924122
gnomAD v2:
X-70519940-C-G
gnomAD v3:
X-71300090-C-G
gnomAD v4:
X-71300090-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71300090C>G , CM000685.2:g.71300090C>G | GRCh38 |
| NC_000023.10:g.70519940C>G , CM000685.1:g.70519940C>G | GRCh37 |
| NC_000023.9:g.70436665C>G | NCBI36 |
| NG_046742.1:g.21899C>G | |
| NG_054891.1:g.3816C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276079.13:c.*14C>G MANE Select | ENSP00000276079.8:n.*14C>G | |
| ENST00000373856.8:c.1528C>G | ENSP00000362963.4:p.Leu510Val | |
| ENST00000420903.6:c.*14C>G | ENSP00000410299.2:n.*14C>G | |
| ENST00000473525.2:n.2138C>G | ||
| ENST00000676495.1:n.2841C>G | ||
| ENST00000676499.1:n.2386C>G | ||
| ENST00000676797.1:c.*14C>G | ENSP00000503920.1:n.*14C>G | |
| ENST00000677014.1:c.*1257C>G | ENSP00000503813.1:n.*1257C>G | |
| ENST00000677218.1:n.2601C>G | ||
| ENST00000677245.1:c.*1639C>G | ENSP00000503929.1:n.*1639C>G | |
| ENST00000677274.1:c.*14C>G | ENSP00000504314.1:n.*14C>G | |
| ENST00000677446.1:c.*14C>G | ENSP00000503031.1:n.*14C>G | |
| ENST00000677612.1:c.*14C>G | ENSP00000504351.1:n.*14C>G | |
| ENST00000677766.1:n.3835C>G | ||
| ENST00000677826.1:n.2172C>G | ||
| ENST00000677879.1:c.*14C>G | ENSP00000504090.1:n.*14C>G | |
| ENST00000677977.1:n.3262C>G | ||
| ENST00000678231.1:c.*14C>G | ENSP00000503233.1:n.*14C>G | |
| ENST00000678323.1:n.2528C>G | ||
| ENST00000678335.1:c.*343C>G | ENSP00000503769.1:n.*343C>G | |
| ENST00000678437.1:c.*14C>G | ENSP00000504007.1:n.*14C>G | |
| ENST00000678660.1:c.*14C>G | ENSP00000504665.1:n.*14C>G | |
| ENST00000678830.1:c.*14C>G | ENSP00000504263.1:n.*14C>G | |
| ENST00000679029.1:c.*244C>G | ENSP00000504193.1:n.*244C>G | |
| ENST00000679267.1:n.3637C>G | ||
| ENST00000276079.12:c.*14C>G | ENSP00000276079.8:n.*14C>G | |
| ENST00000373841.5:c.*14C>G | ENSP00000362947.1:n.*14C>G | |
| ENST00000373856.7:c.*14C>G | ENSP00000362963.3:n.*14C>G | |
| ENST00000472185.1:n.61-429C>G | ||
| ENST00000473525.1:n.1204C>G | ||
| ENST00000474431.5:n.465C>G | ||
| ENST00000490044.5:n.2137C>G | ||
| ENST00000535149.5:c.*14C>G | ENSP00000441364.1:n.*14C>G | |
| NM_001145408.1:c.*14C>G | NP_001138880.1:n.*14C>G | |
| NM_001145409.1:c.*14C>G | NP_001138881.1:n.*14C>G | |
| NM_001145410.1:c.*14C>G | NP_001138882.1:n.*14C>G | |
| NM_007363.4:c.*14C>G | NP_031389.3:n.*14C>G | |
| NM_007363.5:c.*14C>G MANE Select | NP_031389.3:n.*14C>G | |
| NM_001145408.2:c.*14C>G | NP_001138880.1:n.*14C>G | |
| NM_001145409.2:c.*14C>G | NP_001138881.1:n.*14C>G | |
| NM_001145410.2:c.*14C>G | NP_001138882.1:n.*14C>G |