Linked Data
ClinVar Variation Id:
217709
ClinVar RCV Id:
RCV000201664
dbSNP Id:
rs863225226
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93758559C>G , CM000670.2:g.93758559C>G | GRCh38 |
| NC_000008.10:g.94770787C>G , CM000670.1:g.94770787C>G | GRCh37 |
| NC_000008.9:g.94839963C>G | NCBI36 |
| NG_009190.1:g.8716C>G , LRG_688:g.8716C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323130.8:c.389C>G | ENSP00000314488.4:p.Pro130Arg | |
| ENST00000409623.8:c.389C>G | ENSP00000386966.4:p.Pro130Arg | |
| ENST00000452276.6:c.389C>G | ENSP00000388671.2:p.Pro130Arg | |
| ENST00000453906.6:c.389C>G | ENSP00000403035.2:p.Pro130Arg | |
| ENST00000520680.2:c.389C>G | ENSP00000428785.2:p.Pro130Arg | |
| ENST00000521065.2:c.389C>G | ENSP00000427947.2:p.Pro130Arg | |
| ENST00000521517.6:c.389C>G | ENSP00000430740.2:p.Pro130Arg | |
| ENST00000681998.1:c.389C>G | ENSP00000506773.1:p.Pro130Arg | |
| ENST00000682036.1:c.389C>G | ENSP00000508390.1:p.Pro130Arg | |
| ENST00000682577.1:c.389C>G | ENSP00000506963.1:p.Pro130Arg | |
| ENST00000682624.1:c.*33C>G | ENSP00000508343.1:n.*33C>G | |
| ENST00000682700.1:c.389C>G | ENSP00000507627.1:p.Pro130Arg | |
| ENST00000682804.1:n.282C>G | ||
| ENST00000682837.1:c.389C>G | ENSP00000507920.1:p.Pro130Arg | |
| ENST00000682935.1:n.389C>G | ||
| ENST00000682984.1:c.312+2693C>G | ENSP00000507209.1:n.312+2693C>G | |
| ENST00000683078.1:c.389C>G | ENSP00000506796.1:p.Pro130Arg | |
| ENST00000683223.1:c.300C>G | ENSP00000507685.1:n.300C>G | |
| ENST00000683238.1:n.210C>G | ||
| ENST00000683249.1:n.410C>G | ||
| ENST00000683336.1:c.389C>G | ENSP00000507695.1:p.Pro130Arg | |
| ENST00000683362.1:c.312+2693C>G | ENSP00000506985.1:n.312+2693C>G | |
| ENST00000683850.1:n.312C>G | ||
| ENST00000683919.1:c.389C>G | ENSP00000507617.1:p.Pro130Arg | |
| ENST00000683953.1:c.300C>G | ENSP00000508375.1:n.300C>G | |
| ENST00000684023.1:c.389C>G | ENSP00000507461.1:p.Pro130Arg | |
| ENST00000684064.1:c.80C>G | ENSP00000508192.1:p.Pro27Arg | |
| ENST00000684089.1:n.379C>G | ||
| ENST00000684149.1:c.389C>G | ENSP00000507943.1:p.Pro130Arg | |
| ENST00000684416.1:n.214C>G | ||
| ENST00000684540.1:c.389C>G | ENSP00000507987.1:p.Pro130Arg | |
| ENST00000684733.1:n.324C>G | ||
| ENST00000453321.8:c.389C>G MANE Select | ENSP00000389998.3:p.Pro130Arg | |
| ENST00000323130.7:c.359C>G | ENSP00000314488.3:p.Pro120Arg | |
| ENST00000409623.7:c.12C>G | ENSP00000386966.3:p.Ser4= | |
| ENST00000452276.5:c.80C>G | ENSP00000388671.1:p.Pro27Arg | |
| ENST00000453321.7:c.389C>G | ENSP00000389998.3:p.Pro130Arg | |
| ENST00000453906.5:c.389C>G | ENSP00000403035.1:p.Pro130Arg | |
| ENST00000455946.5:c.389C>G | ENSP00000416339.1:p.Pro130Arg | |
| ENST00000474944.5:n.409C>G | ||
| ENST00000475305.1:n.398C>G | ||
| ENST00000498673.5:c.-92C>G | ENSP00000430232.1:n.-92C>G | |
| ENST00000518319.5:c.-131C>G | ENSP00000430289.1:n.-131C>G | |
| ENST00000521065.1:c.295C>G | ||
| ENST00000521222.5:c.*25C>G | ENSP00000429925.1:n.*25C>G | |
| ENST00000521517.5:c.381C>G | ||
| NM_001142301.1:c.12C>G , LRG_688t2:c.12C>G | NP_001135773.1:p.Ser4= | |
| NM_153704.5:c.389C>G , LRG_688t1:c.389C>G | NP_714915.3:p.Pro130Arg | |
| NR_024522.1:n.460C>G | ||
| XM_006716686.2:c.86C>G | XP_006716749.1:p.Pro29Arg | |
| XM_011517363.1:c.389C>G | XP_011515665.1:p.Pro130Arg | |
| XR_428387.1:n.447C>G | ||
| XR_928360.1:n.447C>G | ||
| XR_928361.1:n.447C>G | ||
| XR_928362.1:n.447C>G | ||
| XM_006716686.4:c.86C>G | XP_006716749.1:p.Pro29Arg | |
| XM_011517363.3:c.389C>G | XP_011515665.1:p.Pro130Arg | |
| XM_024447326.1:c.-21C>G | XP_024303094.1:n.-21C>G | |
| XR_001745619.2:n.430C>G | ||
| XR_428387.2:n.430C>G | ||
| XR_928360.3:n.430C>G | ||
| XR_928362.3:n.430C>G | ||
| NM_153704.6:c.389C>G MANE Select | NP_714915.3:p.Pro130Arg | |
| NR_024522.2:n.410C>G |