Linked Data
ClinVar Variation Id:
217722
dbSNP Id:
rs863225233
gnomAD v4:
8-93815365-T-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93815365T>G , CM000670.2:g.93815365T>G | GRCh38 |
| NC_000008.10:g.94827593T>G , CM000670.1:g.94827593T>G | GRCh37 |
| NC_000008.9:g.94896769T>G | NCBI36 |
| NG_009190.1:g.65522T>G , LRG_688:g.65522T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2825T>G | ENSP00000314488.4:p.Phe942Cys | |
| ENST00000409623.8:c.2780T>G | ENSP00000386966.4:p.Phe927Cys | |
| ENST00000452276.6:c.2708T>G | ENSP00000388671.2:p.Phe903Cys | |
| ENST00000453906.6:c.1943T>G | ENSP00000403035.2:p.Phe648Cys | |
| ENST00000518896.2:c.1116T>G | ENSP00000507992.1:n.1116T>G | |
| ENST00000520680.2:c.2948T>G | ENSP00000428785.2:p.Phe983Cys | |
| ENST00000521517.6:c.2726T>G | ENSP00000430740.2:p.Phe909Cys | |
| ENST00000681998.1:c.2646T>G | ENSP00000506773.1:n.2646T>G | |
| ENST00000682036.1:c.2066T>G | ENSP00000508390.1:p.Phe689Cys | |
| ENST00000682577.1:c.2598T>G | ENSP00000506963.1:n.2598T>G | |
| ENST00000682624.1:c.*2399T>G | ENSP00000508343.1:n.*2399T>G | |
| ENST00000682700.1:c.2956T>G | ENSP00000507627.1:n.2956T>G | |
| ENST00000682744.1:n.2260T>G | ||
| ENST00000682804.1:n.2648T>G | ||
| ENST00000682837.1:c.2314T>G | ENSP00000507920.1:n.2314T>G | |
| ENST00000682935.1:n.4875T>G | ||
| ENST00000682984.1:c.2486T>G | ENSP00000507209.1:p.Phe829Cys | |
| ENST00000683078.1:c.2580T>G | ENSP00000506796.1:n.2580T>G | |
| ENST00000683223.1:c.2751T>G | ENSP00000507685.1:n.2751T>G | |
| ENST00000683238.1:n.4049T>G | ||
| ENST00000683249.1:n.4422T>G | ||
| ENST00000683336.1:c.2543T>G | ENSP00000507695.1:n.2543T>G | |
| ENST00000683362.1:c.2486T>G | ENSP00000506985.1:p.Phe829Cys | |
| ENST00000683919.1:c.2755T>G | ENSP00000507617.1:n.2755T>G | |
| ENST00000683953.1:c.2736T>G | ENSP00000508375.1:n.2736T>G | |
| ENST00000684023.1:c.2996T>G | ENSP00000507461.1:n.2996T>G | |
| ENST00000684064.1:c.2516T>G | ENSP00000508192.1:p.Phe839Cys | |
| ENST00000684089.1:n.4375T>G | ||
| ENST00000684149.1:c.*2004T>G | ENSP00000507943.1:n.*2004T>G | |
| ENST00000684343.1:c.1022T>G | ENSP00000507591.1:p.Phe341Cys | |
| ENST00000684416.1:n.2784T>G | ||
| ENST00000684540.1:c.2949T>G | ENSP00000507987.1:n.2949T>G | |
| ENST00000453321.8:c.2825T>G MANE Select | ENSP00000389998.3:p.Phe942Cys | |
| ENST00000323130.7:c.2795T>G | ENSP00000314488.3:p.Phe932Cys | |
| ENST00000409623.7:c.2582T>G | ENSP00000386966.3:p.Phe861Cys | |
| ENST00000453321.7:c.2825T>G | ENSP00000389998.3:p.Phe942Cys | |
| ENST00000518896.1:n.91T>G | ||
| ENST00000519845.5:n.1557T>G | ||
| NM_001142301.1:c.2582T>G , LRG_688t2:c.2582T>G | NP_001135773.1:p.Phe861Cys | |
| NM_153704.5:c.2825T>G , LRG_688t1:c.2825T>G | NP_714915.3:p.Phe942Cys | |
| NR_024522.1:n.2896T>G | ||
| XM_006716686.2:c.2522T>G | XP_006716749.1:p.Phe841Cys | |
| XM_006716687.2:c.2225T>G | XP_006716750.1:p.Phe742Cys | |
| XM_011517363.1:c.1943T>G | XP_011515665.1:p.Phe648Cys | |
| XR_428387.1:n.2883T>G | ||
| XR_928360.1:n.2883T>G | ||
| XR_928361.1:n.2883T>G | ||
| XR_928362.1:n.3077T>G | ||
| XM_006716686.4:c.2522T>G | XP_006716749.1:p.Phe841Cys | |
| XM_011517363.3:c.1943T>G | XP_011515665.1:p.Phe648Cys | |
| XM_024447326.1:c.2171T>G | XP_024303094.1:p.Phe724Cys | |
| XR_001745619.2:n.2866T>G | ||
| XR_428387.2:n.2866T>G | ||
| XR_928360.3:n.2866T>G | ||
| XR_928362.3:n.3060T>G | ||
| NM_153704.6:c.2825T>G MANE Select | NP_714915.3:p.Phe942Cys | |
| NR_024522.2:n.2846T>G |