Linked Data
ClinVar Variation Id:
1345358
ClinVar RCV Id:
RCV002049828
dbSNP Id:
rs564574754
ExAC:
1:67724596 A / C
gnomAD v2:
1-67724596-A-C
gnomAD v3:
1-67258913-A-C
gnomAD v4:
1-67258913-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67258913A>C , CM000663.2:g.67258913A>C | GRCh38 |
| NC_000001.10:g.67724596A>C , CM000663.1:g.67724596A>C | GRCh37 |
| NC_000001.9:g.67497184A>C | NCBI36 |
| NG_011498.1:g.97428A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1514A>C | ENSP00000513138.1:n.1514A>C | |
| ENST00000697150.1:c.1572A>C | ENSP00000513139.1:n.1572A>C | |
| ENST00000697151.1:c.1505A>C | ENSP00000513140.1:n.1505A>C | |
| ENST00000697164.1:c.1585A>C | ENSP00000513153.1:p.Ser529Arg | |
| ENST00000697165.1:c.1372A>C | ENSP00000513154.1:p.Ser458Arg | |
| ENST00000347310.10:c.1675A>C MANE Select | ENSP00000321345.5:p.Ser559Arg | |
| ENST00000637002.1:c.1066A>C | ENSP00000490340.1:p.Ser356Arg | |
| ENST00000347310.9:c.1675A>C | ENSP00000321345.5:p.Ser559Arg | |
| ENST00000395227.2:c.469A>C | ENSP00000378652.2:p.Ser157Arg | |
| ENST00000425614.3:c.910A>C | ENSP00000387640.2:p.Ser304Arg | |
| ENST00000473881.2:c.*501A>C | ENSP00000486667.1:n.*501A>C | |
| NM_144701.2:c.1675A>C | NP_653302.2:p.Ser559Arg | |
| XM_005270516.2:c.913A>C | XP_005270573.1:p.Ser305Arg | |
| XM_011540789.1:c.1765A>C | XP_011539091.1:p.Ser589Arg | |
| XM_011540790.1:c.1675A>C | XP_011539092.1:p.Ser559Arg | |
| XM_011540791.1:c.1675A>C | XP_011539093.1:p.Ser559Arg | |
| XM_011540790.3:c.1675A>C | XP_011539092.1:p.Ser559Arg | |
| XM_011540791.3:c.1675A>C | XP_011539093.1:p.Ser559Arg | |
| XR_001736993.1:n.1755A>C | ||
| NM_144701.3:c.1675A>C MANE Select | NP_653302.2:p.Ser559Arg |