Linked Data
ClinVar Variation Id:
56775
dbSNP Id:
rs386834194
gnomAD v3:
8-93808928-A-G
gnomAD v4:
8-93808928-A-G
PubMed:
PMID:20232449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808928A>G , CM000670.2:g.93808928A>G | GRCh38 |
| NC_000008.10:g.94821156A>G , CM000670.1:g.94821156A>G | GRCh37 |
| NC_000008.9:g.94890332A>G | NCBI36 |
| NG_009190.1:g.59085A>G , LRG_688:g.59085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2528A>G | ENSP00000314488.4:p.Tyr843Cys | |
| ENST00000409623.8:c.2483A>G | ENSP00000386966.4:p.Tyr828Cys | |
| ENST00000452276.6:c.2411A>G | ENSP00000388671.2:p.Tyr804Cys | |
| ENST00000453906.6:c.1646A>G | ENSP00000403035.2:p.Tyr549Cys | |
| ENST00000518896.2:c.819A>G | ENSP00000507992.1:n.819A>G | |
| ENST00000520680.2:c.2651A>G | ENSP00000428785.2:p.Tyr884Cys | |
| ENST00000521517.6:c.2429A>G | ENSP00000430740.2:p.Tyr810Cys | |
| ENST00000681998.1:c.2349A>G | ENSP00000506773.1:n.2349A>G | |
| ENST00000682036.1:c.1769A>G | ENSP00000508390.1:p.Tyr590Cys | |
| ENST00000682577.1:c.2301A>G | ENSP00000506963.1:n.2301A>G | |
| ENST00000682624.1:c.*2102A>G | ENSP00000508343.1:n.*2102A>G | |
| ENST00000682700.1:c.2528A>G | ENSP00000507627.1:p.Tyr843Cys | |
| ENST00000682744.1:n.2066A>G | ||
| ENST00000682804.1:n.2351A>G | ||
| ENST00000682837.1:c.2017A>G | ENSP00000507920.1:n.2017A>G | |
| ENST00000682935.1:n.4578A>G | ||
| ENST00000682984.1:c.2189A>G | ENSP00000507209.1:p.Tyr730Cys | |
| ENST00000683078.1:c.2283A>G | ENSP00000506796.1:n.2283A>G | |
| ENST00000683223.1:c.2260A>G | ENSP00000507685.1:n.2260A>G | |
| ENST00000683238.1:n.3752A>G | ||
| ENST00000683249.1:n.4125A>G | ||
| ENST00000683336.1:c.2349A>G | ENSP00000507695.1:n.2349A>G | |
| ENST00000683362.1:c.2189A>G | ENSP00000506985.1:p.Tyr730Cys | |
| ENST00000683850.1:n.2451A>G | ||
| ENST00000683919.1:c.2458A>G | ENSP00000507617.1:n.2458A>G | |
| ENST00000683953.1:c.2439A>G | ENSP00000508375.1:n.2439A>G | |
| ENST00000684023.1:c.2505A>G | ENSP00000507461.1:n.2505A>G | |
| ENST00000684064.1:c.2219A>G | ENSP00000508192.1:p.Tyr740Cys | |
| ENST00000684089.1:n.4078A>G | ||
| ENST00000684149.1:c.*1707A>G | ENSP00000507943.1:n.*1707A>G | |
| ENST00000684343.1:c.725A>G | ENSP00000507591.1:p.Tyr242Cys | |
| ENST00000684416.1:n.2487A>G | ||
| ENST00000684540.1:c.2458A>G | ENSP00000507987.1:n.2458A>G | |
| ENST00000453321.8:c.2528A>G MANE Select | ENSP00000389998.3:p.Tyr843Cys | |
| ENST00000323130.7:c.2498A>G | ENSP00000314488.3:p.Tyr833Cys | |
| ENST00000409623.7:c.2285A>G | ENSP00000386966.3:p.Tyr762Cys | |
| ENST00000453321.7:c.2528A>G | ENSP00000389998.3:p.Tyr843Cys | |
| ENST00000474944.5:n.1666A>G | ||
| ENST00000519845.5:n.1260A>G | ||
| NM_001142301.1:c.2285A>G , LRG_688t2:c.2285A>G | NP_001135773.1:p.Tyr762Cys | |
| NM_153704.5:c.2528A>G , LRG_688t1:c.2528A>G | NP_714915.3:p.Tyr843Cys | |
| NR_024522.1:n.2599A>G | ||
| XM_006716686.2:c.2225A>G | XP_006716749.1:p.Tyr742Cys | |
| XM_006716687.2:c.1928A>G | XP_006716750.1:p.Tyr643Cys | |
| XM_011517363.1:c.1646A>G | XP_011515665.1:p.Tyr549Cys | |
| XR_428387.1:n.2586A>G | ||
| XR_928360.1:n.2586A>G | ||
| XR_928361.1:n.2586A>G | ||
| XR_928362.1:n.2586A>G | ||
| XM_006716686.4:c.2225A>G | XP_006716749.1:p.Tyr742Cys | |
| XM_011517363.3:c.1646A>G | XP_011515665.1:p.Tyr549Cys | |
| XM_024447326.1:c.1874A>G | XP_024303094.1:p.Tyr625Cys | |
| XR_001745619.2:n.2569A>G | ||
| XR_428387.2:n.2569A>G | ||
| XR_928360.3:n.2569A>G | ||
| XR_928362.3:n.2569A>G | ||
| NM_153704.6:c.2528A>G MANE Select | NP_714915.3:p.Tyr843Cys | |
| NR_024522.2:n.2549A>G |