Linked Data
ClinVar Variation Id:
375357
ClinVar RCV Id:
RCV000416443
dbSNP Id:
rs121907954
gnomAD v4:
15-72350518-C-G
PubMed:
PMID:27896118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72350518C>G , CM000677.2:g.72350518C>G | GRCh38 |
| NC_000015.9:g.72642859C>G , CM000677.1:g.72642859C>G | GRCh37 |
| NC_000015.8:g.70429913C>G | NCBI36 |
| NG_009017.1:g.30662G>C | |
| NG_009017.2:g.30662G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.3151G>C | ||
| ENST00000567027.6:c.805G>C | ENSP00000457521.2:p.Gly269Arg | |
| ENST00000682061.1:c.*467G>C | ENSP00000508316.1:n.*467G>C | |
| ENST00000682177.1:c.848G>C | ENSP00000507409.1:n.848G>C | |
| ENST00000682461.1:c.911G>C | ENSP00000507308.1:n.911G>C | |
| ENST00000682653.1:n.836G>C | ||
| ENST00000682657.1:c.*215G>C | ENSP00000507753.1:n.*215G>C | |
| ENST00000682721.1:c.*608G>C | ENSP00000507535.1:n.*608G>C | |
| ENST00000682843.1:c.*703G>C | ENSP00000508173.1:n.*703G>C | |
| ENST00000683003.1:c.*215G>C | ENSP00000507576.1:n.*215G>C | |
| ENST00000683133.1:c.989G>C | ENSP00000508108.1:n.989G>C | |
| ENST00000683228.1:n.836G>C | ||
| ENST00000683243.1:c.*215G>C | ENSP00000507042.1:n.*215G>C | |
| ENST00000683463.1:c.805G>C | ENSP00000507986.1:p.Gly269Arg | |
| ENST00000683548.1:n.836G>C | ||
| ENST00000683579.1:c.*703G>C | ENSP00000506867.1:n.*703G>C | |
| ENST00000683587.1:n.836G>C | ||
| ENST00000683681.1:c.805G>C | ENSP00000508110.1:p.Gly269Arg | |
| ENST00000683735.1:c.*703G>C | ENSP00000508336.1:n.*703G>C | |
| ENST00000683742.1:n.636G>C | ||
| ENST00000683853.1:c.805G>C | ENSP00000506834.1:p.Gly269Arg | |
| ENST00000683860.1:c.805G>C | ENSP00000507179.1:p.Gly269Arg | |
| ENST00000683884.1:c.805G>C | ENSP00000507004.1:p.Gly269Arg | |
| ENST00000684041.1:c.805G>C | ENSP00000508382.1:p.Gly269Arg | |
| ENST00000684125.1:c.805G>C | ENSP00000507320.1:p.Gly269Arg | |
| ENST00000684203.1:n.2643G>C | ||
| ENST00000684231.1:c.*215G>C | ENSP00000507748.1:n.*215G>C | |
| ENST00000684263.1:c.805G>C | ENSP00000508369.1:p.Gly269Arg | |
| ENST00000684305.1:c.1253G>C | ENSP00000506819.1:n.1253G>C | |
| ENST00000684415.1:c.805G>C | ENSP00000507227.1:p.Gly269Arg | |
| ENST00000684520.1:c.805G>C | ENSP00000506826.1:p.Gly269Arg | |
| ENST00000684602.1:c.*471G>C | ENSP00000507996.1:n.*471G>C | |
| ENST00000684667.1:c.1136G>C | ENSP00000507003.1:n.1136G>C | |
| ENST00000268097.10:c.805G>C MANE Select | ENSP00000268097.6:p.Gly269Arg | |
| ENST00000268097.9:c.805G>C | ENSP00000268097.5:p.Gly269Arg | |
| ENST00000379915.4:c.413-4193G>C | ENSP00000478716.1:n.413-4193G>C | |
| ENST00000563762.5:c.738G>C | ENSP00000456346.1:n.738G>C | |
| ENST00000566304.5:c.838G>C | ENSP00000455114.1:p.Gly280Arg | |
| ENST00000566672.5:c.*215G>C | ENSP00000457037.1:n.*215G>C | |
| ENST00000567027.5:c.677G>C | ||
| ENST00000567159.5:c.805G>C | ENSP00000456489.1:p.Gly269Arg | |
| ENST00000567411.5:c.*326G>C | ENSP00000455545.1:n.*326G>C | |
| ENST00000568777.5:n.6209G>C | ||
| ENST00000569410.5:c.805G>C | ENSP00000457125.1:p.Gly269Arg | |
| NM_000520.4:c.805G>C | NP_000511.2:p.Gly269Arg | |
| NM_000520.5:c.805G>C | NP_000511.2:p.Gly269Arg | |
| NM_001318825.1:c.838G>C | NP_001305754.1:p.Gly280Arg | |
| NR_134869.1:n.1306G>C | ||
| NM_000520.6:c.805G>C MANE Select | NP_000511.2:p.Gly269Arg | |
| NM_001318825.2:c.838G>C | NP_001305754.1:p.Gly280Arg | |
| NR_134869.2:n.847G>C | ||
| NR_134869.3:n.847G>C |