Linked Data
ClinVar Variation Id:
1645305
ClinVar RCV Id:
RCV002143842
dbSNP Id:
rs780748968
ExAC:
8:94792889 C / T
gnomAD v2:
8-94792889-C-T
gnomAD v3:
8-93780661-C-T
gnomAD v4:
8-93780661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780661C>T , CM000670.2:g.93780661C>T | GRCh38 |
| NC_000008.10:g.94792889C>T , CM000670.1:g.94792889C>T | GRCh37 |
| NC_000008.9:g.94862065C>T | NCBI36 |
| NG_009190.1:g.30818C>T , LRG_688:g.30818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.783C>T | ENSP00000314488.4:p.Asp261= | |
| ENST00000409623.8:c.783C>T | ENSP00000386966.4:p.Asp261= | |
| ENST00000452276.6:c.783C>T | ENSP00000388671.2:p.Asp261= | |
| ENST00000453906.6:c.407-5562C>T | ENSP00000403035.2:n.407-5562C>T | |
| ENST00000520680.2:c.783C>T | ENSP00000428785.2:p.Asp261= | |
| ENST00000521065.2:c.*500C>T | ENSP00000427947.2:n.*500C>T | |
| ENST00000521517.6:c.783C>T | ENSP00000430740.2:p.Asp261= | |
| ENST00000681998.1:c.713C>T | ENSP00000506773.1:n.713C>T | |
| ENST00000682036.1:c.407-5562C>T | ENSP00000508390.1:n.407-5562C>T | |
| ENST00000682577.1:c.713C>T | ENSP00000506963.1:n.713C>T | |
| ENST00000682624.1:c.*357C>T | ENSP00000508343.1:n.*357C>T | |
| ENST00000682700.1:c.783C>T | ENSP00000507627.1:p.Asp261= | |
| ENST00000682744.1:n.321C>T | ||
| ENST00000682804.1:n.606C>T | ||
| ENST00000682837.1:c.538C>T | ENSP00000507920.1:p.Leu180Phe | |
| ENST00000682935.1:n.2343C>T | ||
| ENST00000682984.1:c.444C>T | ENSP00000507209.1:p.Asp148= | |
| ENST00000683078.1:c.538C>T | ENSP00000506796.1:p.Leu180Phe | |
| ENST00000683223.1:c.624C>T | ENSP00000507685.1:n.624C>T | |
| ENST00000683238.1:n.2164C>T | ||
| ENST00000683249.1:n.2364C>T | ||
| ENST00000683336.1:c.713C>T | ENSP00000507695.1:n.713C>T | |
| ENST00000683362.1:c.444C>T | ENSP00000506985.1:p.Asp148= | |
| ENST00000683850.1:n.706C>T | ||
| ENST00000683919.1:c.713C>T | ENSP00000507617.1:n.713C>T | |
| ENST00000683953.1:c.694C>T | ENSP00000508375.1:n.694C>T | |
| ENST00000684023.1:c.917C>T | ENSP00000507461.1:n.917C>T | |
| ENST00000684064.1:c.474C>T | ENSP00000508192.1:p.Asp158= | |
| ENST00000684089.1:n.2333C>T | ||
| ENST00000684149.1:c.*119C>T | ENSP00000507943.1:n.*119C>T | |
| ENST00000684416.1:n.742C>T | ||
| ENST00000684540.1:c.713C>T | ENSP00000507987.1:n.713C>T | |
| ENST00000453321.8:c.783C>T MANE Select | ENSP00000389998.3:p.Asp261= | |
| ENST00000323130.7:c.753C>T | ENSP00000314488.3:p.Asp251= | |
| ENST00000409623.7:c.540C>T | ENSP00000386966.3:p.Asp180= | |
| ENST00000425545.2:n.230C>T | ||
| ENST00000452276.5:c.474C>T | ENSP00000388671.1:p.Asp158= | |
| ENST00000453321.7:c.783C>T | ENSP00000389998.3:p.Asp261= | |
| ENST00000453906.5:c.407-5562C>T | ENSP00000403035.1:n.407-5562C>T | |
| ENST00000474944.5:n.427-5562C>T | ||
| ENST00000496213.5:n.248C>T | ||
| NM_001142301.1:c.540C>T , LRG_688t2:c.540C>T | NP_001135773.1:p.Asp180= | |
| NM_153704.5:c.783C>T , LRG_688t1:c.783C>T | NP_714915.3:p.Asp261= | |
| NR_024522.1:n.854C>T | ||
| XM_006716686.2:c.480C>T | XP_006716749.1:p.Asp160= | |
| XM_006716687.2:c.183C>T | XP_006716750.1:p.Asp61= | |
| XM_011517363.1:c.407-5562C>T | XP_011515665.1:n.407-5562C>T | |
| XR_428387.1:n.841C>T | ||
| XR_928360.1:n.841C>T | ||
| XR_928361.1:n.841C>T | ||
| XR_928362.1:n.841C>T | ||
| XM_006716686.4:c.480C>T | XP_006716749.1:p.Asp160= | |
| XM_011517363.3:c.407-5562C>T | XP_011515665.1:n.407-5562C>T | |
| XM_024447326.1:c.129C>T | XP_024303094.1:p.Asp43= | |
| XR_001745619.2:n.824C>T | ||
| XR_428387.2:n.824C>T | ||
| XR_928360.3:n.824C>T | ||
| XR_928362.3:n.824C>T | ||
| NM_153704.6:c.783C>T MANE Select | NP_714915.3:p.Asp261= | |
| NR_024522.2:n.804C>T |