Linked Data
ClinVar Variation Id:
283086
dbSNP Id:
rs780293535
ExAC:
9:35806185 G / A
gnomAD v2:
9-35806185-G-A
gnomAD v3:
9-35806188-G-A
gnomAD v4:
9-35806188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35806188G>A , CM000671.2:g.35806188G>A | GRCh38 |
| NC_000009.11:g.35806185G>A , CM000671.1:g.35806185G>A | GRCh37 |
| NC_000009.10:g.35796185G>A | NCBI36 |
| NG_009249.1:g.18780G>A | |
| NG_047141.1:g.11085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.367G>A | ||
| ENST00000448821.6:c.2327G>A | ENSP00000402902.2:p.Arg776Gln | |
| ENST00000685871.1:c.2255G>A | ENSP00000509964.1:p.Arg752Gln | |
| ENST00000686159.1:n.2366G>A | ||
| ENST00000686486.1:n.1497G>A | ||
| ENST00000687302.1:n.2441G>A | ||
| ENST00000687357.1:c.2180G>A | ENSP00000509549.1:p.Arg727Gln | |
| ENST00000687625.1:n.1482G>A | ||
| ENST00000687787.1:c.2486G>A | ENSP00000509440.1:p.Arg829Gln | |
| ENST00000688201.1:n.2284G>A | ||
| ENST00000688226.1:n.2259G>A | ||
| ENST00000688869.1:n.2633G>A | ||
| ENST00000689788.1:c.2121G>A | ENSP00000508973.1:n.2121G>A | |
| ENST00000689898.1:c.2184G>A | ENSP00000509651.1:n.2184G>A | |
| ENST00000690070.1:c.2411G>A | ENSP00000509654.1:p.Arg804Gln | |
| ENST00000690267.1:c.2116G>A | ENSP00000510432.1:n.2116G>A | |
| ENST00000690552.1:n.2188G>A | ||
| ENST00000691138.1:n.2116G>A | ||
| ENST00000691969.1:c.1827G>A | ENSP00000510244.1:n.1827G>A | |
| ENST00000692232.1:n.3642G>A | ||
| ENST00000692233.1:c.2191G>A | ENSP00000509698.1:n.2191G>A | |
| ENST00000692380.1:n.1482G>A | ||
| ENST00000692447.1:n.3443G>A | ||
| ENST00000693094.1:c.2327G>A | ENSP00000510161.1:p.Arg776Gln | |
| ENST00000342694.7:c.2327G>A MANE Select | ENSP00000341083.2:p.Arg776Gln | |
| ENST00000342694.6:c.2327G>A | ENSP00000341083.2:p.Arg776Gln | |
| ENST00000421267.5:c.367G>A | ||
| ENST00000447210.5:c.104G>A | ENSP00000393029.1:p.Arg35Gln | |
| ENST00000464810.5:n.2327G>A | ||
| NM_003995.3:c.2327G>A | NP_003986.2:p.Arg776Gln | |
| XM_005251478.3:c.2336G>A | XP_005251535.1:p.Arg779Gln | |
| XM_005251479.3:c.1349G>A | XP_005251536.1:p.Arg450Gln | |
| XM_006716778.2:c.2264G>A | XP_006716841.1:p.Arg755Gln | |
| XM_011517889.1:c.1349G>A | XP_011516191.1:p.Arg450Gln | |
| XM_011517890.1:c.1349G>A | XP_011516192.1:p.Arg450Gln | |
| XM_011517891.1:c.1349G>A | XP_011516193.1:p.Arg450Gln | |
| XM_011517892.1:c.1349G>A | XP_011516194.1:p.Arg450Gln | |
| XM_011517893.1:c.1349G>A | XP_011516195.1:p.Arg450Gln | |
| XM_011517894.1:c.1349G>A | XP_011516196.1:p.Arg450Gln | |
| XM_011517895.1:c.932G>A | XP_011516197.1:p.Arg311Gln | |
| XM_024447556.1:c.2495G>A | XP_024303324.1:p.Arg832Gln | |
| XM_024447557.1:c.2486G>A | XP_024303325.1:p.Arg829Gln | |
| XM_024447558.1:c.1508G>A | XP_024303326.1:p.Arg503Gln | |
| XM_024447559.1:c.1091G>A | XP_024303327.1:p.Arg364Gln | |
| XM_024447560.1:c.1082G>A | XP_024303328.1:p.Arg361Gln | |
| XM_024447561.1:c.923G>A | XP_024303329.1:p.Arg308Gln | |
| NM_003995.4:c.2327G>A MANE Select | NP_003986.2:p.Arg776Gln | |
| NM_001378923.1:c.2336G>A | NP_001365852.1:p.Arg779Gln |