Linked Data
ClinVar Variation Id:
497277
dbSNP Id:
rs201501349
ExAC:
11:63988000 C / T
gnomAD v2:
11-63988000-C-T
gnomAD v3:
11-64220528-C-T
gnomAD v4:
11-64220528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220528C>T , CM000673.2:g.64220528C>T | GRCh38 |
| NC_000011.9:g.63988000C>T , CM000673.1:g.63988000C>T | GRCh37 |
| NC_000011.8:g.63744576C>T | NCBI36 |
| NG_016360.1:g.18849C>T , LRG_180:g.18849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1416C>T | ENSP00000279227.5:p.Ala472= | |
| ENST00000540554.2:n.2582C>T | ||
| ENST00000541252.2:c.864C>T | ENSP00000438885.2:p.Ala288= | |
| ENST00000541326.6:n.825C>T | ||
| ENST00000544997.6:c.1404C>T | ENSP00000445778.2:p.Ala468= | |
| ENST00000545896.2:c.93C>T | ENSP00000440209.2:p.Ala31= | |
| ENST00000546255.2:n.1708C>T | ||
| ENST00000698845.1:c.*599C>T | ENSP00000513981.1:n.*599C>T | |
| ENST00000698846.1:n.1650C>T | ||
| ENST00000698847.1:c.*809C>T | ENSP00000513982.1:n.*809C>T | |
| ENST00000698849.1:n.524C>T | ||
| ENST00000698850.1:n.1172C>T | ||
| ENST00000698852.1:c.1404C>T | ENSP00000513984.1:p.Ala468= | |
| ENST00000698853.1:c.*633C>T | ENSP00000513985.1:n.*633C>T | |
| ENST00000698854.1:c.*734C>T | ENSP00000513986.1:n.*734C>T | |
| ENST00000698855.1:n.3056C>T | ||
| ENST00000698856.1:n.2750C>T | ||
| ENST00000698859.1:n.1568C>T | ||
| ENST00000698860.1:c.1416C>T | ENSP00000513988.1:p.Ala472= | |
| ENST00000698861.1:c.1404C>T | ENSP00000513989.1:p.Ala468= | |
| ENST00000698862.1:c.*700C>T | ENSP00000513990.1:n.*700C>T | |
| ENST00000698863.1:c.1404C>T | ENSP00000513991.1:p.Ala468= | |
| ENST00000698864.1:n.1619C>T | ||
| ENST00000698865.1:c.1425C>T | ENSP00000513992.1:p.Ala475= | |
| ENST00000698866.1:c.*918C>T | ENSP00000513993.1:n.*918C>T | |
| ENST00000698867.1:n.5379C>T | ||
| ENST00000698868.1:c.1269C>T | ENSP00000513994.1:p.Ala423= | |
| ENST00000698869.1:c.1311+202C>T | ENSP00000513995.1:n.1311+202C>T | |
| ENST00000698870.1:c.1404C>T | ENSP00000513996.1:p.Ala468= | |
| ENST00000698871.1:n.1927C>T | ||
| ENST00000698872.1:c.*193C>T | ENSP00000513997.1:n.*193C>T | |
| ENST00000698873.1:c.*599C>T | ENSP00000513998.1:n.*599C>T | |
| ENST00000698874.1:c.864C>T | ENSP00000513999.1:p.Ala288= | |
| ENST00000698875.1:n.1264C>T | ||
| ENST00000698876.1:n.1452C>T | ||
| ENST00000698877.1:n.972C>T | ||
| ENST00000698878.1:c.1398C>T | ENSP00000514000.1:p.Ala466= | |
| ENST00000698880.1:c.1272C>T | ||
| ENST00000345728.10:c.1404C>T MANE Select | ENSP00000339950.5:p.Ala468= | |
| ENST00000279227.9:c.1416C>T | ENSP00000279227.5:p.Ala472= | |
| ENST00000345728.9:c.1404C>T | ENSP00000339950.5:p.Ala468= | |
| ENST00000541326.5:n.820C>T | ||
| ENST00000545896.1:c.92C>T | ENSP00000440209.1:p.Pro31Leu | |
| NM_031471.5:c.1404C>T | NP_113659.3:p.Ala468= | |
| NM_178443.2:c.1416C>T , LRG_180t1:c.1416C>T | NP_848537.1:p.Ala472= | |
| XM_011545294.1:c.1416C>T | XP_011543596.1:p.Ala472= | |
| XM_011545295.1:c.876C>T | XP_011543597.1:p.Ala292= | |
| XM_011545296.1:c.876C>T | XP_011543598.1:p.Ala292= | |
| XM_011545294.3:c.1416C>T | XP_011543596.1:p.Ala472= | |
| XM_011545295.2:c.876C>T | XP_011543597.1:p.Ala292= | |
| XM_017018398.2:c.1404C>T | XP_016873887.1:p.Ala468= | |
| XM_017018399.1:c.864C>T | XP_016873888.1:p.Ala288= | |
| NM_031471.6:c.1404C>T MANE Select | NP_113659.3:p.Ala468= | |
| NM_001382361.1:c.1404C>T | NP_001369290.1:p.Ala468= | |
| NM_001382362.1:c.1416C>T | NP_001369291.1:p.Ala472= | |
| NM_001382363.1:c.864C>T | NP_001369292.1:p.Ala288= | |
| NM_001382364.1:c.876C>T | NP_001369293.1:p.Ala292= | |
| NM_001382448.1:c.1404C>T | NP_001369377.1:p.Ala468= | |
| NM_178443.3:c.1416C>T | NP_848537.1:p.Ala472= |