Linked Data
ClinVar Variation Id:
375275
ClinVar RCV Id:
RCV000416372
dbSNP Id:
rs759944122
ExAC:
10:72541677 G / A
gnomAD v2:
10-72541677-G-A
gnomAD v3:
10-70781921-G-A
gnomAD v4:
10-70781921-G-A
COSMIC:
COSM1246348
PubMed:
PMID:28274275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70781921G>A , CM000672.2:g.70781921G>A | GRCh38 |
| NC_000010.10:g.72541677G>A , CM000672.1:g.72541677G>A | GRCh37 |
| NC_000010.9:g.72211683G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456372.4:c.157C>T MANE Select | ENSP00000400224.3:p.Arg53Cys | |
| ENST00000685958.1:n.501C>T | ||
| ENST00000688141.1:n.130C>T | ||
| ENST00000688590.1:n.130C>T | ||
| ENST00000689622.1:c.157C>T | ENSP00000509608.1:p.Arg53Cys | |
| ENST00000692183.1:c.157C>T | ENSP00000509602.1:p.Arg53Cys | |
| ENST00000692747.1:c.157C>T | ENSP00000508807.1:p.Arg53Cys | |
| ENST00000693008.1:n.135C>T | ||
| ENST00000299290.5:c.157C>T | ENSP00000299290.1:p.Arg53Cys | |
| ENST00000456372.3:c.157C>T | ENSP00000400224.3:p.Arg53Cys | |
| NM_152710.2:c.157C>T | NP_689923.2:p.Arg53Cys | |
| XM_005269615.1:c.157C>T | XP_005269672.1:p.Arg53Cys | |
| XM_005269616.1:c.157C>T | XP_005269673.1:p.Arg53Cys | |
| XM_006717701.2:c.-218C>T | XP_006717764.1:n.-218C>T | |
| XM_011539463.1:c.337C>T | XP_011537765.1:p.Arg113Cys | |
| XM_011539464.1:c.337C>T | XP_011537766.1:p.Arg113Cys | |
| XM_011539465.1:c.337C>T | XP_011537767.1:p.Arg113Cys | |
| XM_011539466.1:c.337C>T | XP_011537768.1:p.Arg113Cys | |
| XM_011539467.1:c.337C>T | XP_011537769.1:p.Arg113Cys | |
| XM_011539468.1:c.337C>T | XP_011537770.1:p.Arg113Cys | |
| XM_011539469.1:c.337C>T | XP_011537771.1:p.Arg113Cys | |
| XM_011539470.1:c.337C>T | XP_011537772.1:p.Arg113Cys | |
| XM_011539471.1:c.337C>T | XP_011537773.1:p.Arg113Cys | |
| XM_011539472.1:c.337C>T | XP_011537774.1:p.Arg113Cys | |
| XM_011539473.1:c.337C>T | XP_011537775.1:p.Arg113Cys | |
| XM_011539474.1:c.337C>T | XP_011537776.1:p.Arg113Cys | |
| XM_011539475.1:c.157C>T | XP_011537777.1:p.Arg53Cys | |
| XM_011539476.1:c.157C>T | XP_011537778.1:p.Arg53Cys | |
| XM_011539477.1:c.157C>T | XP_011537779.1:p.Arg53Cys | |
| XM_011539478.1:c.337C>T | XP_011537780.1:p.Arg113Cys | |
| XM_011539479.1:c.337C>T | XP_011537781.1:p.Arg113Cys | |
| XM_011539480.1:c.157C>T | XP_011537782.1:p.Arg53Cys | |
| XM_011539481.1:c.157C>T | XP_011537783.1:p.Arg53Cys | |
| XM_011539482.1:c.157C>T | XP_011537784.1:p.Arg53Cys | |
| XM_011539483.1:c.-218C>T | XP_011537785.1:n.-218C>T | |
| XM_011539484.1:c.-218C>T | XP_011537786.1:n.-218C>T | |
| XM_011539486.1:c.337C>T | XP_011537788.1:p.Arg113Cys | |
| XM_011539487.1:c.337C>T | XP_011537789.1:p.Arg113Cys | |
| XR_246078.1:n.547C>T | ||
| XR_945619.1:n.780C>T | ||
| XR_945620.1:n.780C>T | ||
| XR_945621.1:n.780C>T | ||
| XR_945622.1:n.780C>T | ||
| XR_945623.1:n.780C>T | ||
| XR_945624.1:n.600C>T | ||
| XR_945625.1:n.780C>T | ||
| XR_945626.1:n.780C>T | ||
| NM_001318241.1:c.157C>T | NP_001305170.1:p.Arg53Cys | |
| NM_001318242.1:c.157C>T | NP_001305171.1:p.Arg53Cys | |
| NM_001318243.1:c.157C>T | NP_001305172.1:p.Arg53Cys | |
| NM_152710.3:c.157C>T | NP_689923.3:p.Arg53Cys | |
| NR_134531.1:n.565C>T | ||
| NR_134532.1:n.337C>T | ||
| NR_134533.1:n.337C>T | ||
| NR_134534.1:n.337C>T | ||
| XM_017015845.1:c.157C>T | XP_016871334.1:p.Arg53Cys | |
| XM_017015846.1:c.157C>T | XP_016871335.1:p.Arg53Cys | |
| XM_017015847.1:c.157C>T | XP_016871336.1:p.Arg53Cys | |
| XM_017015848.1:c.157C>T | XP_016871337.1:p.Arg53Cys | |
| XM_017015849.1:c.157C>T | XP_016871338.1:p.Arg53Cys | |
| XM_017015850.1:c.157C>T | XP_016871339.1:p.Arg53Cys | |
| XM_017015851.1:c.157C>T | XP_016871340.1:p.Arg53Cys | |
| XM_017015852.1:c.157C>T | XP_016871341.1:p.Arg53Cys | |
| XM_017015853.1:c.157C>T | XP_016871342.1:p.Arg53Cys | |
| XM_017015854.1:c.157C>T | XP_016871343.1:p.Arg53Cys | |
| XM_017015855.1:c.157C>T | XP_016871344.1:p.Arg53Cys | |
| XM_017015856.1:c.157C>T | XP_016871345.1:p.Arg53Cys | |
| XM_017015857.1:c.157C>T | XP_016871346.1:p.Arg53Cys | |
| XM_017015858.1:c.157C>T | XP_016871347.1:p.Arg53Cys | |
| XM_017015859.2:c.157C>T | XP_016871348.1:p.Arg53Cys | |
| XM_017015860.1:c.157C>T | XP_016871349.1:p.Arg53Cys | |
| XM_017015861.2:c.157C>T | XP_016871350.1:p.Arg53Cys | |
| XM_017015862.1:c.157C>T | XP_016871351.1:p.Arg53Cys | |
| XR_001747054.1:n.547C>T | ||
| XR_001747055.1:n.547C>T | ||
| XR_001747056.1:n.547C>T | ||
| XR_001747057.1:n.547C>T | ||
| XR_001747058.1:n.547C>T | ||
| XR_002956967.1:n.547C>T | ||
| NM_001318242.2:c.157C>T | NP_001305171.1:p.Arg53Cys | |
| NM_001318243.2:c.157C>T | NP_001305172.1:p.Arg53Cys | |
| NM_152710.4:c.157C>T | NP_689923.3:p.Arg53Cys | |
| NR_134531.2:n.523C>T | ||
| NM_001318241.2:c.157C>T MANE Select | NP_001305170.1:p.Arg53Cys | |
| NR_134532.2:n.130C>T | ||
| NR_134533.2:n.130C>T | ||
| NR_134534.2:n.130C>T | ||
| NR_165441.1:n.523C>T |