Linked Data
ClinVar Variation Id:
526232
dbSNP Id:
rs151076155
ExAC:
17:76134100 G / A
gnomAD v2:
17-76134100-G-A
gnomAD v3:
17-78138019-G-A
gnomAD v4:
17-78138019-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78138019G>A , CM000679.2:g.78138019G>A | GRCh38 |
| NC_000017.10:g.76134100G>A , CM000679.1:g.76134100G>A | GRCh37 |
| NC_000017.9:g.73645695G>A | NCBI36 |
| NG_007881.1:g.12242G>A , LRG_119:g.12242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.1032G>A | ||
| ENST00000698566.1:n.1026G>A | ||
| ENST00000698567.1:n.1026G>A | ||
| ENST00000698568.1:n.947G>A | ||
| ENST00000698569.1:n.786G>A | ||
| ENST00000698570.1:n.633G>A | ||
| ENST00000698571.1:n.302G>A | ||
| ENST00000698572.1:n.449G>A | ||
| ENST00000318430.10:c.1364G>A MANE Select | ENSP00000325561.4:p.Arg455Gln | |
| ENST00000318430.9:c.1364G>A | ENSP00000325561.4:p.Arg455Gln | |
| ENST00000589691.1:c.695G>A | ENSP00000467482.1:p.Arg232Gln | |
| ENST00000590184.1:n.263G>A | ||
| ENST00000591003.1:n.176G>A | ||
| ENST00000591983.5:n.737G>A | ||
| NM_152468.4:c.1364G>A , LRG_119t1:c.1364G>A | NP_689681.2:p.Arg455Gln | |
| XM_011524402.1:c.1376G>A | XP_011522704.1:p.Arg459Gln | |
| XM_011524403.1:c.1364G>A | XP_011522705.1:p.Arg455Gln | |
| XM_011524404.1:c.1376G>A | XP_011522706.1:p.Arg459Gln | |
| XM_011524405.1:c.1262G>A | XP_011522707.1:p.Arg421Gln | |
| XM_011524406.1:c.1259G>A | XP_011522708.1:p.Arg420Gln | |
| XM_011524407.1:c.707G>A | XP_011522709.1:p.Arg236Gln | |
| XM_011524408.1:c.707G>A | XP_011522710.1:p.Arg236Gln | |
| XR_934395.1:n.3685G>A | ||
| XR_934397.1:n.3650G>A | ||
| XR_934398.1:n.3657G>A | ||
| XR_934400.1:n.3561G>A | ||
| XM_017024242.2:c.515G>A | XP_016879731.1:p.Arg172Gln | |
| XM_017024243.1:c.695G>A | XP_016879732.1:p.Arg232Gln | |
| XM_024450617.1:c.1376G>A | XP_024306385.1:p.Arg459Gln | |
| XM_024450618.1:c.1376G>A | XP_024306386.1:p.Arg459Gln | |
| XM_024450619.1:c.1364G>A | XP_024306387.1:p.Arg455Gln | |
| XM_024450620.1:c.1376G>A | XP_024306388.1:p.Arg459Gln | |
| XM_024450621.1:c.1376G>A | XP_024306389.1:p.Arg459Gln | |
| XM_024450622.1:c.1376G>A | XP_024306390.1:p.Arg459Gln | |
| XM_024450623.1:c.1259G>A | XP_024306391.1:p.Arg420Gln | |
| XM_024450624.1:c.1341G>A | XP_024306392.1:p.Pro447= | |
| XR_002957973.1:n.1457G>A | ||
| XR_002957974.1:n.1422G>A | ||
| XR_002957975.1:n.1410G>A | ||
| XR_002957976.1:n.1429G>A | ||
| XR_002957977.1:n.1417G>A | ||
| XR_002957978.1:n.1464G>A | ||
| XR_002957979.1:n.1333G>A | ||
| NM_152468.5:c.1364G>A MANE Select | NP_689681.2:p.Arg455Gln |