ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108471681G>A , CM000664.2:g.108471681G>A | GRCh38 |
| NC_000002.11:g.109088137G>A , CM000664.1:g.109088137G>A | GRCh37 |
| NC_000002.10:g.108454569G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685519.1:c.2049G>A | ENSP00000508981.1:p.Gln683= | |
| ENST00000687399.1:c.2352G>A | ENSP00000509332.1:p.Gln784= | |
| ENST00000687832.1:n.2815G>A | ||
| ENST00000688612.1:n.2508G>A | ||
| ENST00000689620.1:n.2520G>A | ||
| ENST00000692013.1:n.2325G>A | ||
| ENST00000692694.1:c.2199G>A | ENSP00000509242.1:p.Gln733= | |
| ENST00000692969.1:n.2435G>A | ||
| ENST00000693744.1:n.3780G>A | ||
| ENST00000309863.11:c.2352G>A MANE Select | ENSP00000307939.5:p.Gln784= | |
| ENST00000309863.10:c.2352G>A | ENSP00000307939.5:p.Gln784= | |
| ENST00000409896.1:c.2241G>A | ENSP00000386997.1:p.Gln747= | |
| ENST00000482325.5:c.*2129G>A | ENSP00000419969.1:n.*2129G>A | |
| ENST00000614209.1:c.1584G>A | ENSP00000482844.1:p.Gln528= | |
| NM_181453.3:c.2352G>A | NP_852118.1:p.Gln784= | |
| NR_028063.1:n.2421G>A | ||
| XM_006712870.2:c.2361G>A | XP_006712933.1:p.Gln787= | |
| XM_006712871.1:c.2049G>A | XP_006712934.1:p.Gln683= | |
| XM_006712872.2:c.2361G>A | XP_006712935.1:p.Gln787= | |
| XM_011512213.1:c.2016G>A | XP_011510515.1:p.Gln672= | |
| XR_923067.1:n.2409G>A | ||
| XR_923068.1:n.2410G>A | ||
| XM_006712870.3:c.2361G>A | XP_006712933.1:p.Gln787= | |
| XM_006712872.3:c.2361G>A | XP_006712935.1:p.Gln787= | |
| XM_011512213.2:c.2016G>A | XP_011510515.1:p.Gln672= | |
| XR_001739078.1:n.2427G>A | ||
| XR_001739079.1:n.2427G>A | ||
| XR_001739080.1:n.2427G>A | ||
| XR_923067.2:n.2427G>A | ||
| NM_181453.4:c.2352G>A MANE Select | NP_852118.2:p.Gln784= | |
| NR_028063.2:n.2336G>A |