Linked Data
ClinVar Variation Id:
2178941
dbSNP Id:
rs745740665
ExAC:
11:63990567 G / A
gnomAD v2:
11-63990567-G-A
gnomAD v3:
11-64223095-G-A
gnomAD v4:
11-64223095-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223095G>A , CM000673.2:g.64223095G>A | GRCh38 |
| NC_000011.9:g.63990567G>A , CM000673.1:g.63990567G>A | GRCh37 |
| NC_000011.8:g.63747143G>A | NCBI36 |
| NG_016360.1:g.21416G>A , LRG_180:g.21416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1730G>A | ENSP00000279227.5:p.Arg577Gln | |
| ENST00000540554.2:n.3242G>A | ||
| ENST00000541252.2:c.1178G>A | ENSP00000438885.2:p.Arg393Gln | |
| ENST00000544997.6:c.1718G>A | ENSP00000445778.2:p.Arg573Gln | |
| ENST00000545896.2:c.282G>A | ENSP00000440209.2:p.Pro94= | |
| ENST00000546255.2:n.2022G>A | ||
| ENST00000698845.1:c.*913G>A | ENSP00000513981.1:n.*913G>A | |
| ENST00000698846.1:n.1964G>A | ||
| ENST00000698847.1:c.*1123G>A | ENSP00000513982.1:n.*1123G>A | |
| ENST00000698850.1:n.3739G>A | ||
| ENST00000698852.1:c.1718G>A | ENSP00000513984.1:p.Arg573Gln | |
| ENST00000698853.1:c.*947G>A | ENSP00000513985.1:n.*947G>A | |
| ENST00000698854.1:c.*1048G>A | ENSP00000513986.1:n.*1048G>A | |
| ENST00000698855.1:n.3370G>A | ||
| ENST00000698856.1:n.3064G>A | ||
| ENST00000698859.1:n.2228G>A | ||
| ENST00000698860.1:c.1730G>A | ENSP00000513988.1:p.Arg577Gln | |
| ENST00000698861.1:c.1718G>A | ENSP00000513989.1:p.Arg573Gln | |
| ENST00000698862.1:c.*1014G>A | ENSP00000513990.1:n.*1014G>A | |
| ENST00000698863.1:c.1718G>A | ENSP00000513991.1:p.Arg573Gln | |
| ENST00000698864.1:n.2279G>A | ||
| ENST00000698865.1:c.1739G>A | ENSP00000513992.1:p.Arg580Gln | |
| ENST00000698866.1:c.*1506G>A | ENSP00000513993.1:n.*1506G>A | |
| ENST00000698867.1:n.5693G>A | ||
| ENST00000698868.1:c.1583G>A | ENSP00000513994.1:p.Arg528Gln | |
| ENST00000698869.1:c.1484G>A | ENSP00000513995.1:p.Arg495Gln | |
| ENST00000698870.1:c.1718G>A | ENSP00000513996.1:p.Arg573Gln | |
| ENST00000698871.1:n.2241G>A | ||
| ENST00000698872.1:c.*507G>A | ENSP00000513997.1:n.*507G>A | |
| ENST00000698873.1:c.*913G>A | ENSP00000513998.1:n.*913G>A | |
| ENST00000698874.1:c.1178G>A | ENSP00000513999.1:p.Arg393Gln | |
| ENST00000698875.1:n.1578G>A | ||
| ENST00000698876.1:n.1766G>A | ||
| ENST00000698877.1:n.1286G>A | ||
| ENST00000698878.1:c.1712G>A | ENSP00000514000.1:p.Arg571Gln | |
| ENST00000698880.1:c.1586G>A | ||
| ENST00000345728.10:c.1718G>A MANE Select | ENSP00000339950.5:p.Arg573Gln | |
| ENST00000279227.9:c.1730G>A | ENSP00000279227.5:p.Arg577Gln | |
| ENST00000345728.9:c.1718G>A | ENSP00000339950.5:p.Arg573Gln | |
| ENST00000540554.1:n.354G>A | ||
| ENST00000545896.1:c.281G>A | ENSP00000440209.1:p.Arg94Gln | |
| NM_031471.5:c.1718G>A | NP_113659.3:p.Arg573Gln | |
| NM_178443.2:c.1730G>A , LRG_180t1:c.1730G>A | NP_848537.1:p.Arg577Gln | |
| XM_011545294.1:c.1730G>A | XP_011543596.1:p.Arg577Gln | |
| XM_011545295.1:c.1190G>A | XP_011543597.1:p.Arg397Gln | |
| XM_011545296.1:c.1190G>A | XP_011543598.1:p.Arg397Gln | |
| XM_011545294.3:c.1730G>A | XP_011543596.1:p.Arg577Gln | |
| XM_011545295.2:c.1190G>A | XP_011543597.1:p.Arg397Gln | |
| XM_017018398.2:c.1718G>A | XP_016873887.1:p.Arg573Gln | |
| XM_017018399.1:c.1178G>A | XP_016873888.1:p.Arg393Gln | |
| NM_031471.6:c.1718G>A MANE Select | NP_113659.3:p.Arg573Gln | |
| NM_001382361.1:c.1718G>A | NP_001369290.1:p.Arg573Gln | |
| NM_001382362.1:c.1730G>A | NP_001369291.1:p.Arg577Gln | |
| NM_001382363.1:c.1178G>A | NP_001369292.1:p.Arg393Gln | |
| NM_001382364.1:c.1190G>A | NP_001369293.1:p.Arg397Gln | |
| NM_001382448.1:c.1718G>A | NP_001369377.1:p.Arg573Gln | |
| NM_178443.3:c.1730G>A | NP_848537.1:p.Arg577Gln |