Linked Data
ClinVar Variation Id:
537729
ClinVar RCV Id:
RCV000646740
dbSNP Id:
rs200243967
ExAC:
11:63990541 C / T
gnomAD v2:
11-63990541-C-T
gnomAD v3:
11-64223069-C-T
gnomAD v4:
11-64223069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223069C>T , CM000673.2:g.64223069C>T | GRCh38 |
| NC_000011.9:g.63990541C>T , CM000673.1:g.63990541C>T | GRCh37 |
| NC_000011.8:g.63747117C>T | NCBI36 |
| NG_016360.1:g.21390C>T , LRG_180:g.21390C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1704C>T | ENSP00000279227.5:p.Asp568= | |
| ENST00000540554.2:n.3216C>T | ||
| ENST00000541252.2:c.1152C>T | ENSP00000438885.2:p.Asp384= | |
| ENST00000544997.6:c.1692C>T | ENSP00000445778.2:p.Asp564= | |
| ENST00000545896.2:c.256C>T | ENSP00000440209.2:p.Arg86Ter | |
| ENST00000546255.2:n.1996C>T | ||
| ENST00000698845.1:c.*887C>T | ENSP00000513981.1:n.*887C>T | |
| ENST00000698846.1:n.1938C>T | ||
| ENST00000698847.1:c.*1097C>T | ENSP00000513982.1:n.*1097C>T | |
| ENST00000698850.1:n.3713C>T | ||
| ENST00000698852.1:c.1692C>T | ENSP00000513984.1:p.Asp564= | |
| ENST00000698853.1:c.*921C>T | ENSP00000513985.1:n.*921C>T | |
| ENST00000698854.1:c.*1022C>T | ENSP00000513986.1:n.*1022C>T | |
| ENST00000698855.1:n.3344C>T | ||
| ENST00000698856.1:n.3038C>T | ||
| ENST00000698859.1:n.2202C>T | ||
| ENST00000698860.1:c.1704C>T | ENSP00000513988.1:p.Asp568= | |
| ENST00000698861.1:c.1692C>T | ENSP00000513989.1:p.Asp564= | |
| ENST00000698862.1:c.*988C>T | ENSP00000513990.1:n.*988C>T | |
| ENST00000698863.1:c.1692C>T | ENSP00000513991.1:p.Asp564= | |
| ENST00000698864.1:n.2253C>T | ||
| ENST00000698865.1:c.1713C>T | ENSP00000513992.1:p.Asp571= | |
| ENST00000698866.1:c.*1480C>T | ENSP00000513993.1:n.*1480C>T | |
| ENST00000698867.1:n.5667C>T | ||
| ENST00000698868.1:c.1557C>T | ENSP00000513994.1:p.Asp519= | |
| ENST00000698869.1:c.1458C>T | ENSP00000513995.1:p.Asp486= | |
| ENST00000698870.1:c.1692C>T | ENSP00000513996.1:p.Asp564= | |
| ENST00000698871.1:n.2215C>T | ||
| ENST00000698872.1:c.*481C>T | ENSP00000513997.1:n.*481C>T | |
| ENST00000698873.1:c.*887C>T | ENSP00000513998.1:n.*887C>T | |
| ENST00000698874.1:c.1152C>T | ENSP00000513999.1:p.Asp384= | |
| ENST00000698875.1:n.1552C>T | ||
| ENST00000698876.1:n.1740C>T | ||
| ENST00000698877.1:n.1260C>T | ||
| ENST00000698878.1:c.1686C>T | ENSP00000514000.1:p.Asp562= | |
| ENST00000698880.1:c.1560C>T | ||
| ENST00000345728.10:c.1692C>T MANE Select | ENSP00000339950.5:p.Asp564= | |
| ENST00000279227.9:c.1704C>T | ENSP00000279227.5:p.Asp568= | |
| ENST00000345728.9:c.1692C>T | ENSP00000339950.5:p.Asp564= | |
| ENST00000540554.1:n.328C>T | ||
| ENST00000545896.1:c.255C>T | ENSP00000440209.1:p.Asp85= | |
| NM_031471.5:c.1692C>T | NP_113659.3:p.Asp564= | |
| NM_178443.2:c.1704C>T , LRG_180t1:c.1704C>T | NP_848537.1:p.Asp568= | |
| XM_011545294.1:c.1704C>T | XP_011543596.1:p.Asp568= | |
| XM_011545295.1:c.1164C>T | XP_011543597.1:p.Asp388= | |
| XM_011545296.1:c.1164C>T | XP_011543598.1:p.Asp388= | |
| XM_011545294.3:c.1704C>T | XP_011543596.1:p.Asp568= | |
| XM_011545295.2:c.1164C>T | XP_011543597.1:p.Asp388= | |
| XM_017018398.2:c.1692C>T | XP_016873887.1:p.Asp564= | |
| XM_017018399.1:c.1152C>T | XP_016873888.1:p.Asp384= | |
| NM_031471.6:c.1692C>T MANE Select | NP_113659.3:p.Asp564= | |
| NM_001382361.1:c.1692C>T | NP_001369290.1:p.Asp564= | |
| NM_001382362.1:c.1704C>T | NP_001369291.1:p.Asp568= | |
| NM_001382363.1:c.1152C>T | NP_001369292.1:p.Asp384= | |
| NM_001382364.1:c.1164C>T | NP_001369293.1:p.Asp388= | |
| NM_001382448.1:c.1692C>T | NP_001369377.1:p.Asp564= | |
| NM_178443.3:c.1704C>T | NP_848537.1:p.Asp568= |