Linked Data
ClinVar Variation Id:
290693
dbSNP Id:
rs35794236
ExAC:
X:70375089 C / G
gnomAD v2:
X-70375089-C-G
gnomAD v3:
X-71155239-C-G
gnomAD v4:
X-71155239-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71155239C>G , CM000685.2:g.71155239C>G | GRCh38 |
| NC_000023.10:g.70375089C>G , CM000685.1:g.70375089C>G | GRCh37 |
| NC_000023.9:g.70291814C>G | NCBI36 |
| NG_015874.1:g.15409C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395855.7:c.483C>G | ENSP00000379196.3:p.Pro161= | |
| ENST00000476589.2:n.782C>G | ||
| ENST00000536169.6:c.483C>G | ENSP00000445298.1:p.Pro161= | |
| ENST00000685718.1:c.543C>G | ENSP00000510514.1:p.Pro181= | |
| ENST00000687220.1:c.252C>G | ENSP00000509531.1:p.Pro84= | |
| ENST00000687470.1:c.603C>G | ENSP00000508881.1:p.Pro201= | |
| ENST00000687568.1:c.483C>G | ENSP00000509635.1:p.Pro161= | |
| ENST00000688566.1:c.252C>G | ENSP00000509202.1:p.Pro84= | |
| ENST00000688950.1:n.1586C>G | ||
| ENST00000689857.1:c.457+7033C>G | ENSP00000510719.1:n.457+7033C>G | |
| ENST00000689968.1:c.543C>G | ENSP00000510150.1:p.Pro181= | |
| ENST00000690133.1:c.192C>G | ENSP00000508912.1:p.Pro64= | |
| ENST00000690293.1:c.*143C>G | ENSP00000509154.1:n.*143C>G | |
| ENST00000691045.1:n.490C>G | ||
| ENST00000692338.1:c.192C>G | ENSP00000508700.1:p.Pro64= | |
| ENST00000692468.1:n.107C>G | ||
| ENST00000692905.1:c.543C>G | ENSP00000510435.1:p.Pro181= | |
| ENST00000358741.4:c.603C>G MANE Select | ENSP00000351591.4:p.Pro201= | |
| ENST00000358741.3:c.603C>G | ENSP00000351591.3:p.Pro201= | |
| ENST00000374051.7:c.543C>G | ENSP00000363163.3:p.Pro181= | |
| ENST00000395855.6:c.483C>G | ENSP00000379196.2:p.Pro161= | |
| ENST00000476589.1:n.107C>G | ||
| ENST00000536169.5:c.483C>G | ENSP00000445298.1:p.Pro161= | |
| ENST00000612180.4:c.192C>G | ENSP00000479877.1:p.Pro64= | |
| NM_001166660.1:c.483C>G | NP_001160132.1:p.Pro161= | |
| NM_018977.3:c.543C>G | NP_061850.2:p.Pro181= | |
| NM_181303.1:c.603C>G | NP_851820.1:p.Pro201= | |
| XM_005262279.2:c.603C>G | XP_005262336.1:p.Pro201= | |
| XM_006724662.2:c.456C>G | XP_006724725.2:p.Pro152= | |
| XM_006724663.2:c.252C>G | XP_006724726.1:p.Pro84= | |
| XM_011530974.1:c.252C>G | XP_011529276.1:p.Pro84= | |
| XM_011530975.1:c.192C>G | XP_011529277.1:p.Pro64= | |
| NM_001321276.1:c.192C>G | NP_001308205.1:p.Pro64= | |
| XM_006724662.4:c.456C>G | XP_006724725.2:p.Pro152= | |
| XM_006724663.4:c.252C>G | XP_006724726.1:p.Pro84= | |
| XM_011530974.3:c.252C>G | XP_011529276.1:p.Pro84= | |
| XM_017029597.2:c.603C>G | XP_016885086.1:p.Pro201= | |
| NM_001321276.2:c.192C>G | NP_001308205.1:p.Pro64= | |
| NM_018977.4:c.543C>G | NP_061850.2:p.Pro181= | |
| NM_181303.2:c.603C>G MANE Select | NP_851820.1:p.Pro201= | |
| NM_001166660.2:c.483C>G | NP_001160132.1:p.Pro161= |