Linked Data
ClinVar Variation Id:
138965
dbSNP Id:
rs12574508
ExAC:
11:9853777 G / C
gnomAD v2:
11-9853777-G-C
gnomAD v3:
11-9832230-G-C
gnomAD v4:
11-9832230-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9832230G>C , CM000673.2:g.9832230G>C | GRCh38 |
| NC_000011.9:g.9853777G>C , CM000673.1:g.9853777G>C | GRCh37 |
| NC_000011.8:g.9810353G>C | NCBI36 |
| NG_008074.1:g.466978C>G , LRG_267:g.466978C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530741.2:c.2350C>G | ENSP00000432643.2:p.Gln784Glu | |
| ENST00000675281.2:c.3646C>G | ENSP00000502491.1:p.Gln1216Glu | |
| ENST00000676324.2:c.3646C>G | ENSP00000502578.1:p.Gln1216Glu | |
| ENST00000676387.2:c.3532C>G | ENSP00000502779.1:p.Gln1178Glu | |
| ENST00000688344.1:c.3253C>G | ENSP00000509987.1:p.Gln1085Glu | |
| ENST00000689128.1:c.3646C>G | ENSP00000509587.1:p.Gln1216Glu | |
| ENST00000689258.1:c.3508C>G | ENSP00000510475.1:p.Gln1170Glu | |
| ENST00000689356.1:n.817C>G | ||
| ENST00000689597.1:c.2350C>G | ENSP00000510781.1:p.Gln784Glu | |
| ENST00000689674.1:c.2540C>G | ENSP00000510723.1:n.2540C>G | |
| ENST00000689940.1:c.3640C>G | ENSP00000508452.1:p.Gln1214Glu | |
| ENST00000690003.1:c.2445C>G | ENSP00000508748.1:n.2445C>G | |
| ENST00000692716.1:c.3517C>G | ENSP00000509545.1:p.Gln1173Glu | |
| ENST00000693181.1:c.2475C>G | ENSP00000510179.1:n.2475C>G | |
| ENST00000256190.13:c.3646C>G MANE Select | ENSP00000256190.8:p.Gln1216Glu | |
| ENST00000675281.1:c.3646C>G | ENSP00000502491.1:p.Gln1216Glu | |
| ENST00000676324.1:c.3646C>G | ENSP00000502578.1:p.Gln1216Glu | |
| ENST00000676387.1:c.3532C>G | ENSP00000502779.1:p.Gln1178Glu | |
| ENST00000256190.12:c.3646C>G | ENSP00000256190.8:p.Gln1216Glu | |
| ENST00000530741.1:c.297C>G | ||
| ENST00000617179.4:c.3505C>G | ENSP00000482806.1:p.Gln1169Glu | |
| NM_030962.3:c.3646C>G , LRG_267t1:c.3646C>G | NP_112224.1:p.Gln1216Glu | |
| XM_005253154.3:c.3646C>G | XP_005253211.1:p.Gln1216Glu | |
| XM_005253155.3:c.3517C>G | XP_005253212.1:p.Gln1173Glu | |
| XM_011520394.1:c.3532C>G | XP_011518696.1:p.Gln1178Glu | |
| XM_011520395.1:c.3646C>G | XP_011518697.1:p.Gln1216Glu | |
| XM_005253154.5:c.3646C>G | XP_005253211.1:p.Gln1216Glu | |
| XM_005253155.5:c.3517C>G | XP_005253212.1:p.Gln1173Glu | |
| XM_011520394.3:c.3532C>G | XP_011518696.1:p.Gln1178Glu | |
| XM_011520395.3:c.3646C>G | XP_011518697.1:p.Gln1216Glu | |
| XM_017018372.2:c.3508C>G | XP_016873861.1:p.Gln1170Glu | |
| XM_017018373.2:c.3508C>G | XP_016873862.1:p.Gln1170Glu | |
| XM_017018374.2:c.3517C>G | XP_016873863.1:p.Gln1173Glu | |
| XM_017018375.2:c.3646C>G | XP_016873864.1:p.Gln1216Glu | |
| XM_017018376.2:c.3646C>G | XP_016873865.1:p.Gln1216Glu | |
| XR_001747994.2:n.3784C>G | ||
| NM_001386339.1:c.3646C>G | NP_001373268.1:p.Gln1216Glu | |
| NM_001386342.1:c.3517C>G | NP_001373271.1:p.Gln1173Glu | |
| NM_030962.4:c.3646C>G MANE Select | NP_112224.1:p.Gln1216Glu |