Linked Data
ClinVar Variation Id:
1479204
ClinVar RCV Id:
RCV001976663
dbSNP Id:
rs530714168
ExAC:
1:67724476 G / A
gnomAD v2:
1-67724476-G-A
gnomAD v3:
1-67258793-G-A
gnomAD v4:
1-67258793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67258793G>A , CM000663.2:g.67258793G>A | GRCh38 |
| NC_000001.10:g.67724476G>A , CM000663.1:g.67724476G>A | GRCh37 |
| NC_000001.9:g.67497064G>A | NCBI36 |
| NG_011498.1:g.97308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1394G>A | ENSP00000513138.1:n.1394G>A | |
| ENST00000697150.1:c.1452G>A | ENSP00000513139.1:n.1452G>A | |
| ENST00000697151.1:c.1385G>A | ENSP00000513140.1:n.1385G>A | |
| ENST00000697164.1:c.1465G>A | ENSP00000513153.1:p.Gly489Arg | |
| ENST00000697165.1:c.1252G>A | ENSP00000513154.1:p.Gly418Arg | |
| ENST00000347310.10:c.1555G>A MANE Select | ENSP00000321345.5:p.Gly519Arg | |
| ENST00000637002.1:c.946G>A | ENSP00000490340.1:p.Gly316Arg | |
| ENST00000347310.9:c.1555G>A | ENSP00000321345.5:p.Gly519Arg | |
| ENST00000395227.2:c.349G>A | ENSP00000378652.2:p.Gly117Arg | |
| ENST00000425614.3:c.790G>A | ENSP00000387640.2:p.Gly264Arg | |
| ENST00000473881.2:c.*381G>A | ENSP00000486667.1:n.*381G>A | |
| NM_144701.2:c.1555G>A | NP_653302.2:p.Gly519Arg | |
| XM_005270516.2:c.793G>A | XP_005270573.1:p.Gly265Arg | |
| XM_011540789.1:c.1645G>A | XP_011539091.1:p.Gly549Arg | |
| XM_011540790.1:c.1555G>A | XP_011539092.1:p.Gly519Arg | |
| XM_011540791.1:c.1555G>A | XP_011539093.1:p.Gly519Arg | |
| XM_011540790.3:c.1555G>A | XP_011539092.1:p.Gly519Arg | |
| XM_011540791.3:c.1555G>A | XP_011539093.1:p.Gly519Arg | |
| XR_001736993.1:n.1635G>A | ||
| NM_144701.3:c.1555G>A MANE Select | NP_653302.2:p.Gly519Arg |