Linked Data
ClinVar Variation Id:
217718
ClinVar RCV Id:
RCV000201638
dbSNP Id:
rs863225230
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93804807C>A , CM000670.2:g.93804807C>A | GRCh38 |
| NC_000008.10:g.94817035C>A , CM000670.1:g.94817035C>A | GRCh37 |
| NC_000008.9:g.94886211C>A | NCBI36 |
| NG_009190.1:g.54964C>A , LRG_688:g.54964C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2368C>A | ENSP00000314488.4:p.His790Asn | |
| ENST00000409623.8:c.2323C>A | ENSP00000386966.4:p.His775Asn | |
| ENST00000452276.6:c.2322+1123C>A | ENSP00000388671.2:n.2322+1123C>A | |
| ENST00000453906.6:c.1486C>A | ENSP00000403035.2:p.His496Asn | |
| ENST00000518896.2:c.659C>A | ENSP00000507992.1:n.659C>A | |
| ENST00000520680.2:c.2491C>A | ENSP00000428785.2:p.His831Asn | |
| ENST00000521517.6:c.2269C>A | ENSP00000430740.2:p.His757Asn | |
| ENST00000681998.1:c.2189C>A | ENSP00000506773.1:n.2189C>A | |
| ENST00000682036.1:c.1609C>A | ENSP00000508390.1:p.His537Asn | |
| ENST00000682577.1:c.2141C>A | ENSP00000506963.1:n.2141C>A | |
| ENST00000682624.1:c.*1942C>A | ENSP00000508343.1:n.*1942C>A | |
| ENST00000682700.1:c.2368C>A | ENSP00000507627.1:p.His790Asn | |
| ENST00000682744.1:n.1906C>A | ||
| ENST00000682804.1:n.2191C>A | ||
| ENST00000682837.1:c.1857C>A | ENSP00000507920.1:n.1857C>A | |
| ENST00000682935.1:n.4418C>A | ||
| ENST00000682984.1:c.2029C>A | ENSP00000507209.1:p.His677Asn | |
| ENST00000683078.1:c.2123C>A | ENSP00000506796.1:n.2123C>A | |
| ENST00000683223.1:c.2100C>A | ENSP00000507685.1:n.2100C>A | |
| ENST00000683238.1:n.3592C>A | ||
| ENST00000683249.1:n.3965C>A | ||
| ENST00000683336.1:c.2189C>A | ENSP00000507695.1:n.2189C>A | |
| ENST00000683362.1:c.2029C>A | ENSP00000506985.1:p.His677Asn | |
| ENST00000683850.1:n.2291C>A | ||
| ENST00000683919.1:c.2298C>A | ENSP00000507617.1:n.2298C>A | |
| ENST00000683953.1:c.2279C>A | ENSP00000508375.1:n.2279C>A | |
| ENST00000684023.1:c.2345C>A | ENSP00000507461.1:n.2345C>A | |
| ENST00000684064.1:c.2059C>A | ENSP00000508192.1:p.His687Asn | |
| ENST00000684089.1:n.3918C>A | ||
| ENST00000684149.1:c.*1547C>A | ENSP00000507943.1:n.*1547C>A | |
| ENST00000684343.1:c.565C>A | ENSP00000507591.1:p.His189Asn | |
| ENST00000684416.1:n.2327C>A | ||
| ENST00000684540.1:c.2298C>A | ENSP00000507987.1:n.2298C>A | |
| ENST00000453321.8:c.2368C>A MANE Select | ENSP00000389998.3:p.His790Asn | |
| ENST00000323130.7:c.2338C>A | ENSP00000314488.3:p.His780Asn | |
| ENST00000409623.7:c.2125C>A | ENSP00000386966.3:p.His709Asn | |
| ENST00000453321.7:c.2368C>A | ENSP00000389998.3:p.His790Asn | |
| ENST00000474944.5:n.1506C>A | ||
| ENST00000519845.5:n.1100C>A | ||
| NM_001142301.1:c.2125C>A , LRG_688t2:c.2125C>A | NP_001135773.1:p.His709Asn | |
| NM_153704.5:c.2368C>A , LRG_688t1:c.2368C>A | NP_714915.3:p.His790Asn | |
| NR_024522.1:n.2439C>A | ||
| XM_006716686.2:c.2065C>A | XP_006716749.1:p.His689Asn | |
| XM_006716687.2:c.1768C>A | XP_006716750.1:p.His590Asn | |
| XM_011517363.1:c.1486C>A | XP_011515665.1:p.His496Asn | |
| XR_428387.1:n.2426C>A | ||
| XR_928360.1:n.2426C>A | ||
| XR_928361.1:n.2426C>A | ||
| XR_928362.1:n.2426C>A | ||
| XM_006716686.4:c.2065C>A | XP_006716749.1:p.His689Asn | |
| XM_011517363.3:c.1486C>A | XP_011515665.1:p.His496Asn | |
| XM_024447326.1:c.1714C>A | XP_024303094.1:p.His572Asn | |
| XR_001745619.2:n.2409C>A | ||
| XR_428387.2:n.2409C>A | ||
| XR_928360.3:n.2409C>A | ||
| XR_928362.3:n.2409C>A | ||
| NM_153704.6:c.2368C>A MANE Select | NP_714915.3:p.His790Asn | |
| NR_024522.2:n.2389C>A |