Linked Data
ClinVar Variation Id:
217004
dbSNP Id:
rs863224923
gnomAD v3:
2-32145005-G-A
gnomAD v4:
2-32145005-G-A
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32145005G>A , CM000664.2:g.32145005G>A | GRCh38 |
| NC_000002.11:g.32370074G>A , CM000664.1:g.32370074G>A | GRCh37 |
| NC_000002.10:g.32223578G>A | NCBI36 |
| NG_008730.1:g.86395G>A , LRG_714:g.86395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1345G>A | ENSP00000515816.1:n.*1345G>A | |
| ENST00000315285.9:c.1685G>A MANE Select | ENSP00000320885.3:p.Arg562Gln | |
| ENST00000621856.2:c.1682G>A | ENSP00000482496.2:p.Arg561Gln | |
| ENST00000642281.1:c.1422G>A | ||
| ENST00000642455.1:c.1586G>A | ENSP00000493827.1:p.Arg529Gln | |
| ENST00000642751.1:c.1390+1590G>A | ||
| ENST00000642999.1:c.1427G>A | ENSP00000496589.1:p.Arg476Gln | |
| ENST00000643334.1:c.1265G>A | ||
| ENST00000644408.1:c.1561G>A | ||
| ENST00000644954.1:c.1331G>A | ENSP00000494312.1:p.Arg444Gln | |
| ENST00000645159.1:n.2422G>A | ||
| ENST00000645671.1:c.1066+1590G>A | ||
| ENST00000645730.1:c.864G>A | ||
| ENST00000646082.1:c.1331G>A | ||
| ENST00000646571.1:c.1589G>A | ENSP00000495015.1:p.Arg530Gln | |
| ENST00000647007.1:n.1377G>A | ||
| ENST00000647133.1:c.1185G>A | ||
| ENST00000315285.7:c.1685G>A | ENSP00000320885.3:p.Arg562Gln | |
| ENST00000345662.5:c.1589G>A | ENSP00000340817.1:p.Arg530Gln | |
| ENST00000615843.4:c.1685G>A | ENSP00000480893.1:p.Arg562Gln | |
| ENST00000621856.1:c.1427G>A | ENSP00000482496.1:p.Arg476Gln | |
| NM_014946.3:c.1685G>A , LRG_714t1:c.1685G>A | NP_055761.2:p.Arg562Gln | |
| NM_199436.1:c.1589G>A | NP_955468.1:p.Arg530Gln | |
| XM_005264516.3:c.1682G>A | XP_005264573.1:p.Arg561Gln | |
| XM_011533067.1:c.1616+1590G>A | XP_011531369.1:n.1616+1590G>A | |
| NM_001363823.1:c.1682G>A | NP_001350752.1:p.Arg561Gln | |
| NM_001363875.1:c.1586G>A | NP_001350804.1:p.Arg529Gln | |
| XM_005264516.5:c.1682G>A | XP_005264573.1:p.Arg561Gln | |
| XM_011533067.2:c.1616+1590G>A | XP_011531369.1:n.1616+1590G>A | |
| XM_017004778.2:c.1520+1590G>A | XP_016860267.1:n.1520+1590G>A | |
| NM_001363823.2:c.1682G>A | NP_001350752.1:p.Arg561Gln | |
| NM_001363875.2:c.1586G>A | NP_001350804.1:p.Arg529Gln | |
| NM_001377959.1:c.1520+1590G>A | NP_001364888.1:n.1520+1590G>A | |
| NM_014946.4:c.1685G>A MANE Select | NP_055761.2:p.Arg562Gln | |
| NM_199436.2:c.1589G>A | NP_955468.1:p.Arg530Gln |