Linked Data
ClinVar Variation Id:
1391917
ClinVar RCV Id:
RCV001911114
dbSNP Id:
rs762860439
ExAC:
1:161823112 A / G
gnomAD v2:
1-161823112-A-G
gnomAD v3:
1-161853322-A-G
gnomAD v4:
1-161853322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161853322A>G , CM000663.2:g.161853322A>G | GRCh38 |
| NC_000001.10:g.161823112A>G , CM000663.1:g.161823112A>G | GRCh37 |
| NC_000001.9:g.160089736A>G | NCBI36 |
| NG_029773.1:g.92079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.1532A>G MANE Select | ENSP00000356919.3:p.Gln511Arg | |
| ENST00000679833.1:c.1532A>G | ENSP00000505321.1:p.Gln511Arg | |
| ENST00000679853.1:c.1532A>G | ENSP00000506149.1:p.Gln511Arg | |
| ENST00000679886.1:c.926A>G | ENSP00000506559.1:p.Gln309Arg | |
| ENST00000680180.1:n.1572A>G | ||
| ENST00000680462.1:c.1532A>G | ENSP00000505583.1:p.Gln511Arg | |
| ENST00000680481.1:c.*1155A>G | ENSP00000505919.1:n.*1155A>G | |
| ENST00000680688.1:c.1589A>G | ENSP00000504865.1:p.Gln530Arg | |
| ENST00000681001.1:c.*1384A>G | ENSP00000506145.1:n.*1384A>G | |
| ENST00000681036.1:c.1334A>G | ENSP00000505474.1:p.Gln445Arg | |
| ENST00000681169.1:c.*450A>G | ENSP00000505455.1:n.*450A>G | |
| ENST00000681187.1:n.1572A>G | ||
| ENST00000681492.1:c.1532A>G | ENSP00000506139.1:p.Gln511Arg | |
| ENST00000681541.1:c.1334A>G | ENSP00000506087.1:p.Gln445Arg | |
| ENST00000681557.1:c.*1333A>G | ENSP00000506229.1:n.*1333A>G | |
| ENST00000681738.1:c.1532A>G | ENSP00000505025.1:p.Gln511Arg | |
| ENST00000681779.1:n.1582A>G | ||
| ENST00000681801.1:c.1532A>G | ENSP00000505998.1:p.Gln511Arg | |
| ENST00000681912.1:c.1148A>G | ENSP00000505875.1:p.Gln383Arg | |
| ENST00000367942.3:c.1532A>G | ENSP00000356919.3:p.Gln511Arg | |
| ENST00000476437.1:n.739A>G | ||
| NM_007348.3:c.1532A>G | NP_031374.2:p.Gln511Arg | |
| XM_006711224.1:c.1532A>G | XP_006711287.1:p.Gln511Arg | |
| XM_011509308.1:c.1589A>G | XP_011507610.1:p.Gln530Arg | |
| XM_011509309.1:c.1589A>G | XP_011507611.1:p.Gln530Arg | |
| XM_011509310.1:c.1589A>G | XP_011507612.1:p.Gln530Arg | |
| XM_011509310.2:c.1589A>G | XP_011507612.1:p.Gln530Arg | |
| NM_007348.4:c.1532A>G MANE Select | NP_031374.2:p.Gln511Arg |