Linked Data
ClinVar Variation Id:
323470
ClinVar RCV Id:
RCV000645980
dbSNP Id:
rs34491309
ExAC:
17:42153185 A / G
gnomAD v2:
17-42153185-A-G
gnomAD v3:
17-44075817-A-G
gnomAD v4:
17-44075817-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075817A>G , CM000679.2:g.44075817A>G | GRCh38 |
| NC_000017.10:g.42153185A>G , CM000679.1:g.42153185A>G | GRCh37 |
| NC_000017.9:g.39508711A>G | NCBI36 |
| NG_015818.1:g.10088A>G , LRG_182:g.10088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585361.6:c.*652A>G | ENSP00000466983.1:n.*652A>G | |
| ENST00000588558.6:c.*790A>G | ENSP00000467624.1:n.*790A>G | |
| ENST00000590253.3:c.*108A>G | ENSP00000465111.2:n.*108A>G | |
| ENST00000593115.2:c.*836A>G | ENSP00000466821.1:n.*836A>G | |
| ENST00000696383.1:c.470A>G | ENSP00000512593.1:p.Gln157Arg | |
| ENST00000696384.1:c.*375A>G | ENSP00000512594.1:n.*375A>G | |
| ENST00000696385.1:c.*533A>G | ENSP00000512595.1:n.*533A>G | |
| ENST00000696386.1:c.*108A>G | ENSP00000512596.1:n.*108A>G | |
| ENST00000696387.1:c.*442A>G | ENSP00000512597.1:n.*442A>G | |
| ENST00000696388.1:c.*661A>G | ENSP00000512598.1:n.*661A>G | |
| ENST00000696389.1:c.*846A>G | ENSP00000512599.1:n.*846A>G | |
| ENST00000696390.1:c.605A>G | ENSP00000512600.1:p.Gln202Arg | |
| ENST00000696391.1:c.*671A>G | ENSP00000512601.1:n.*671A>G | |
| ENST00000696392.1:c.815A>G | ENSP00000512602.1:p.Gln272Arg | |
| ENST00000696393.1:c.815A>G | ENSP00000512603.1:p.Gln272Arg | |
| ENST00000696405.1:c.677+366A>G | ENSP00000512607.1:n.677+366A>G | |
| ENST00000269097.9:c.815A>G MANE Select | ENSP00000269097.3:p.Gln272Arg | |
| ENST00000269097.8:c.815A>G | ENSP00000269097.3:p.Gln272Arg | |
| ENST00000585361.5:c.*652A>G | ENSP00000466983.1:n.*652A>G | |
| ENST00000588558.5:c.*790A>G | ENSP00000467624.1:n.*790A>G | |
| ENST00000590253.2:c.317A>G | ||
| ENST00000590639.1:n.836A>G | ||
| ENST00000591696.1:c.707A>G | ENSP00000468677.1:p.Gln236Arg | |
| NM_138387.3:c.815A>G , LRG_182t1:c.815A>G | NP_612396.1:p.Gln272Arg | |
| NR_028581.1:n.1245A>G | ||
| NR_028582.1:n.1110A>G | ||
| XM_011525473.1:c.470A>G | XP_011523775.1:p.Gln157Arg | |
| XM_011525474.1:c.470A>G | XP_011523776.1:p.Gln157Arg | |
| NM_001319945.1:c.*108A>G | NP_001306874.1:n.*108A>G | |
| XM_011525473.3:c.470A>G | XP_011523775.1:p.Gln157Arg | |
| XM_011525474.3:c.470A>G | XP_011523776.1:p.Gln157Arg | |
| XM_017025335.2:c.470A>G | XP_016880824.1:p.Gln157Arg | |
| NM_001319945.2:c.*108A>G | NP_001306874.1:n.*108A>G | |
| NR_028581.2:n.1064A>G | ||
| NR_028582.2:n.929A>G | ||
| NM_001384165.1:c.470A>G | NP_001371094.1:p.Gln157Arg | |
| NM_001384166.1:c.470A>G | NP_001371095.1:p.Gln157Arg | |
| NM_001384167.1:c.470A>G | NP_001371096.1:p.Gln157Arg | |
| NM_001384168.1:c.470A>G | NP_001371097.1:p.Gln157Arg | |
| NM_138387.4:c.815A>G MANE Select | NP_612396.1:p.Gln272Arg |