Linked Data
ClinVar Variation Id:
2815453
ClinVar RCV Id:
RCV003606229
dbSNP Id:
rs1052912357
gnomAD v2:
11-63990535-G-A
gnomAD v3:
11-64223063-G-A
gnomAD v4:
11-64223063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223063G>A , CM000673.2:g.64223063G>A | GRCh38 |
| NC_000011.9:g.63990535G>A , CM000673.1:g.63990535G>A | GRCh37 |
| NC_000011.8:g.63747111G>A | NCBI36 |
| NG_016360.1:g.21384G>A , LRG_180:g.21384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1698G>A | ENSP00000279227.5:p.Arg566= | |
| ENST00000540554.2:n.3210G>A | ||
| ENST00000541252.2:c.1146G>A | ENSP00000438885.2:p.Arg382= | |
| ENST00000544997.6:c.1686G>A | ENSP00000445778.2:p.Arg562= | |
| ENST00000545896.2:c.250G>A | ENSP00000440209.2:p.Glu84Lys | |
| ENST00000546255.2:n.1990G>A | ||
| ENST00000698845.1:c.*881G>A | ENSP00000513981.1:n.*881G>A | |
| ENST00000698846.1:n.1932G>A | ||
| ENST00000698847.1:c.*1091G>A | ENSP00000513982.1:n.*1091G>A | |
| ENST00000698850.1:n.3707G>A | ||
| ENST00000698852.1:c.1686G>A | ENSP00000513984.1:p.Arg562= | |
| ENST00000698853.1:c.*915G>A | ENSP00000513985.1:n.*915G>A | |
| ENST00000698854.1:c.*1016G>A | ENSP00000513986.1:n.*1016G>A | |
| ENST00000698855.1:n.3338G>A | ||
| ENST00000698856.1:n.3032G>A | ||
| ENST00000698859.1:n.2196G>A | ||
| ENST00000698860.1:c.1698G>A | ENSP00000513988.1:p.Arg566= | |
| ENST00000698861.1:c.1686G>A | ENSP00000513989.1:p.Arg562= | |
| ENST00000698862.1:c.*982G>A | ENSP00000513990.1:n.*982G>A | |
| ENST00000698863.1:c.1686G>A | ENSP00000513991.1:p.Arg562= | |
| ENST00000698864.1:n.2247G>A | ||
| ENST00000698865.1:c.1707G>A | ENSP00000513992.1:p.Arg569= | |
| ENST00000698866.1:c.*1474G>A | ENSP00000513993.1:n.*1474G>A | |
| ENST00000698867.1:n.5661G>A | ||
| ENST00000698868.1:c.1551G>A | ENSP00000513994.1:p.Arg517= | |
| ENST00000698869.1:c.1452G>A | ENSP00000513995.1:p.Arg484= | |
| ENST00000698870.1:c.1686G>A | ENSP00000513996.1:p.Arg562= | |
| ENST00000698871.1:n.2209G>A | ||
| ENST00000698872.1:c.*475G>A | ENSP00000513997.1:n.*475G>A | |
| ENST00000698873.1:c.*881G>A | ENSP00000513998.1:n.*881G>A | |
| ENST00000698874.1:c.1146G>A | ENSP00000513999.1:p.Arg382= | |
| ENST00000698875.1:n.1546G>A | ||
| ENST00000698876.1:n.1734G>A | ||
| ENST00000698877.1:n.1254G>A | ||
| ENST00000698878.1:c.1680G>A | ENSP00000514000.1:p.Arg560= | |
| ENST00000698880.1:c.1554G>A | ||
| ENST00000345728.10:c.1686G>A MANE Select | ENSP00000339950.5:p.Arg562= | |
| ENST00000279227.9:c.1698G>A | ENSP00000279227.5:p.Arg566= | |
| ENST00000345728.9:c.1686G>A | ENSP00000339950.5:p.Arg562= | |
| ENST00000540554.1:n.322G>A | ||
| ENST00000545896.1:c.249G>A | ENSP00000440209.1:p.Arg83= | |
| NM_031471.5:c.1686G>A | NP_113659.3:p.Arg562= | |
| NM_178443.2:c.1698G>A , LRG_180t1:c.1698G>A | NP_848537.1:p.Arg566= | |
| XM_011545294.1:c.1698G>A | XP_011543596.1:p.Arg566= | |
| XM_011545295.1:c.1158G>A | XP_011543597.1:p.Arg386= | |
| XM_011545296.1:c.1158G>A | XP_011543598.1:p.Arg386= | |
| XM_011545294.3:c.1698G>A | XP_011543596.1:p.Arg566= | |
| XM_011545295.2:c.1158G>A | XP_011543597.1:p.Arg386= | |
| XM_017018398.2:c.1686G>A | XP_016873887.1:p.Arg562= | |
| XM_017018399.1:c.1146G>A | XP_016873888.1:p.Arg382= | |
| NM_031471.6:c.1686G>A MANE Select | NP_113659.3:p.Arg562= | |
| NM_001382361.1:c.1686G>A | NP_001369290.1:p.Arg562= | |
| NM_001382362.1:c.1698G>A | NP_001369291.1:p.Arg566= | |
| NM_001382363.1:c.1146G>A | NP_001369292.1:p.Arg382= | |
| NM_001382364.1:c.1158G>A | NP_001369293.1:p.Arg386= | |
| NM_001382448.1:c.1686G>A | NP_001369377.1:p.Arg562= | |
| NM_178443.3:c.1698G>A | NP_848537.1:p.Arg566= |