Linked Data
dbSNP Id:
rs1353483558
gnomAD v2:
1-67724560-G-A
gnomAD v3:
1-67258877-G-A
gnomAD v4:
1-67258877-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67258877G>A , CM000663.2:g.67258877G>A | GRCh38 |
| NC_000001.10:g.67724560G>A , CM000663.1:g.67724560G>A | GRCh37 |
| NC_000001.9:g.67497148G>A | NCBI36 |
| NG_011498.1:g.97392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1478G>A | ENSP00000513138.1:n.1478G>A | |
| ENST00000697150.1:c.1536G>A | ENSP00000513139.1:n.1536G>A | |
| ENST00000697151.1:c.1469G>A | ENSP00000513140.1:n.1469G>A | |
| ENST00000697164.1:c.1549G>A | ENSP00000513153.1:p.Gly517Arg | |
| ENST00000697165.1:c.1336G>A | ENSP00000513154.1:p.Gly446Arg | |
| ENST00000347310.10:c.1639G>A MANE Select | ENSP00000321345.5:p.Gly547Arg | |
| ENST00000637002.1:c.1030G>A | ENSP00000490340.1:p.Gly344Arg | |
| ENST00000347310.9:c.1639G>A | ENSP00000321345.5:p.Gly547Arg | |
| ENST00000395227.2:c.433G>A | ENSP00000378652.2:p.Gly145Arg | |
| ENST00000425614.3:c.874G>A | ENSP00000387640.2:p.Gly292Arg | |
| ENST00000473881.2:c.*465G>A | ENSP00000486667.1:n.*465G>A | |
| NM_144701.2:c.1639G>A | NP_653302.2:p.Gly547Arg | |
| XM_005270516.2:c.877G>A | XP_005270573.1:p.Gly293Arg | |
| XM_011540789.1:c.1729G>A | XP_011539091.1:p.Gly577Arg | |
| XM_011540790.1:c.1639G>A | XP_011539092.1:p.Gly547Arg | |
| XM_011540791.1:c.1639G>A | XP_011539093.1:p.Gly547Arg | |
| XM_011540790.3:c.1639G>A | XP_011539092.1:p.Gly547Arg | |
| XM_011540791.3:c.1639G>A | XP_011539093.1:p.Gly547Arg | |
| XR_001736993.1:n.1719G>A | ||
| NM_144701.3:c.1639G>A MANE Select | NP_653302.2:p.Gly547Arg |