Linked Data
ClinVar Variation Id:
3900
dbSNP Id:
rs121907957
gnomAD v2:
15-72645470-C-T
gnomAD v3:
15-72353129-C-T
gnomAD v4:
15-72353129-C-T
COSMIC:
COSM3401904
PubMed:
PMID:2141777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72353129C>T , CM000677.2:g.72353129C>T | GRCh38 |
| NC_000015.9:g.72645470C>T , CM000677.1:g.72645470C>T | GRCh37 |
| NC_000015.8:g.70432524C>T | NCBI36 |
| NG_009017.1:g.28051G>A | |
| NG_009017.2:g.28051G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.2855G>A | ||
| ENST00000567027.6:c.509G>A | ENSP00000457521.2:p.Arg170Gln | |
| ENST00000568260.2:c.529G>A | ENSP00000458128.2:n.529G>A | |
| ENST00000682061.1:c.*171G>A | ENSP00000508316.1:n.*171G>A | |
| ENST00000682177.1:c.509G>A | ENSP00000507409.1:p.Arg170Gln | |
| ENST00000682461.1:c.677-1895G>A | ENSP00000507308.1:n.677-1895G>A | |
| ENST00000682653.1:n.540G>A | ||
| ENST00000682657.1:c.254-1895G>A | ENSP00000507753.1:n.254-1895G>A | |
| ENST00000682721.1:c.*312G>A | ENSP00000507535.1:n.*312G>A | |
| ENST00000682843.1:c.*407G>A | ENSP00000508173.1:n.*407G>A | |
| ENST00000683003.1:c.413-1895G>A | ENSP00000507576.1:n.413-1895G>A | |
| ENST00000683133.1:c.693G>A | ENSP00000508108.1:n.693G>A | |
| ENST00000683228.1:n.540G>A | ||
| ENST00000683243.1:c.413-1895G>A | ENSP00000507042.1:n.413-1895G>A | |
| ENST00000683463.1:c.509G>A | ENSP00000507986.1:p.Arg170Gln | |
| ENST00000683548.1:n.540G>A | ||
| ENST00000683579.1:c.*407G>A | ENSP00000506867.1:n.*407G>A | |
| ENST00000683587.1:n.540G>A | ||
| ENST00000683681.1:c.509G>A | ENSP00000508110.1:p.Arg170Gln | |
| ENST00000683735.1:c.*407G>A | ENSP00000508336.1:n.*407G>A | |
| ENST00000683853.1:c.509G>A | ENSP00000506834.1:p.Arg170Gln | |
| ENST00000683860.1:c.509G>A | ENSP00000507179.1:p.Arg170Gln | |
| ENST00000683884.1:c.509G>A | ENSP00000507004.1:p.Arg170Gln | |
| ENST00000684041.1:c.509G>A | ENSP00000508382.1:p.Arg170Gln | |
| ENST00000684125.1:c.509G>A | ENSP00000507320.1:p.Arg170Gln | |
| ENST00000684203.1:n.2347G>A | ||
| ENST00000684231.1:c.413-1895G>A | ENSP00000507748.1:n.413-1895G>A | |
| ENST00000684263.1:c.509G>A | ENSP00000508369.1:p.Arg170Gln | |
| ENST00000684305.1:c.957G>A | ENSP00000506819.1:n.957G>A | |
| ENST00000684415.1:c.509G>A | ENSP00000507227.1:p.Arg170Gln | |
| ENST00000684520.1:c.509G>A | ENSP00000506826.1:p.Arg170Gln | |
| ENST00000684602.1:c.*237-1895G>A | ENSP00000507996.1:n.*237-1895G>A | |
| ENST00000684667.1:c.840G>A | ENSP00000507003.1:n.840G>A | |
| ENST00000268097.10:c.509G>A MANE Select | ENSP00000268097.6:p.Arg170Gln | |
| ENST00000268097.9:c.509G>A | ENSP00000268097.5:p.Arg170Gln | |
| ENST00000379915.4:c.412+2430G>A | ENSP00000478716.1:n.412+2430G>A | |
| ENST00000563762.5:c.504-1895G>A | ENSP00000456346.1:n.504-1895G>A | |
| ENST00000566304.5:c.542G>A | ENSP00000455114.1:p.Arg181Gln | |
| ENST00000566672.5:c.413-1895G>A | ENSP00000457037.1:n.413-1895G>A | |
| ENST00000567027.5:c.381G>A | ||
| ENST00000567159.5:c.509G>A | ENSP00000456489.1:p.Arg170Gln | |
| ENST00000567411.5:c.*30G>A | ENSP00000455545.1:n.*30G>A | |
| ENST00000568260.1:c.510G>A | ||
| ENST00000568777.5:n.5913G>A | ||
| ENST00000569410.5:c.509G>A | ENSP00000457125.1:p.Arg170Gln | |
| ENST00000569509.5:n.418-1895G>A | ||
| NM_000520.4:c.509G>A | NP_000511.2:p.Arg170Gln | |
| NM_000520.5:c.509G>A | NP_000511.2:p.Arg170Gln | |
| NM_001318825.1:c.542G>A | NP_001305754.1:p.Arg181Gln | |
| NR_134869.1:n.1010G>A | ||
| NM_000520.6:c.509G>A MANE Select | NP_000511.2:p.Arg170Gln | |
| NM_001318825.2:c.542G>A | NP_001305754.1:p.Arg181Gln | |
| NR_134869.2:n.551G>A | ||
| NR_134869.3:n.551G>A |