Linked Data
dbSNP Id:
rs1350646188
gnomAD v2:
11-63987798-T-C
gnomAD v4:
11-64220326-T-C
MyVariant Identifiers:
chr11:g.63987798T>C (hg19)
chr11:g.63987798_63987802delinsCGTGA (hg19)
chr11:g.64220326T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220326T>C , CM000673.2:g.64220326T>C | GRCh38 |
| NC_000011.9:g.63987798T>C , CM000673.1:g.63987798T>C | GRCh37 |
| NC_000011.8:g.63744374T>C | NCBI36 |
| NG_016360.1:g.18647T>C , LRG_180:g.18647T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1323T>C | ENSP00000279227.5:p.Asp441= | |
| ENST00000540554.2:n.2380T>C | ||
| ENST00000541252.2:c.771T>C | ENSP00000438885.2:p.Asp257= | |
| ENST00000541326.6:n.623T>C | ||
| ENST00000544997.6:c.1311T>C | ENSP00000445778.2:p.Asp437= | |
| ENST00000546255.2:n.1506T>C | ||
| ENST00000698845.1:c.*506T>C | ENSP00000513981.1:n.*506T>C | |
| ENST00000698846.1:n.1448T>C | ||
| ENST00000698847.1:c.*716T>C | ENSP00000513982.1:n.*716T>C | |
| ENST00000698848.1:n.500T>C | ||
| ENST00000698849.1:n.431T>C | ||
| ENST00000698850.1:n.970T>C | ||
| ENST00000698852.1:c.1311T>C | ENSP00000513984.1:p.Asp437= | |
| ENST00000698853.1:c.*540T>C | ENSP00000513985.1:n.*540T>C | |
| ENST00000698854.1:c.*641T>C | ENSP00000513986.1:n.*641T>C | |
| ENST00000698855.1:n.2963T>C | ||
| ENST00000698856.1:n.2548T>C | ||
| ENST00000698859.1:n.1475T>C | ||
| ENST00000698860.1:c.1323T>C | ENSP00000513988.1:p.Asp441= | |
| ENST00000698861.1:c.1311T>C | ENSP00000513989.1:p.Asp437= | |
| ENST00000698862.1:c.*607T>C | ENSP00000513990.1:n.*607T>C | |
| ENST00000698863.1:c.1311T>C | ENSP00000513991.1:p.Asp437= | |
| ENST00000698864.1:n.1417T>C | ||
| ENST00000698865.1:c.1332T>C | ENSP00000513992.1:p.Asp444= | |
| ENST00000698866.1:c.*716T>C | ENSP00000513993.1:n.*716T>C | |
| ENST00000698867.1:n.5286T>C | ||
| ENST00000698868.1:c.1176T>C | ENSP00000513994.1:p.Asp392= | |
| ENST00000698869.1:c.1311T>C | ENSP00000513995.1:p.Asp437= | |
| ENST00000698870.1:c.1311T>C | ENSP00000513996.1:p.Asp437= | |
| ENST00000698871.1:n.1834T>C | ||
| ENST00000698872.1:c.*100T>C | ENSP00000513997.1:n.*100T>C | |
| ENST00000698873.1:c.*506T>C | ENSP00000513998.1:n.*506T>C | |
| ENST00000698874.1:c.771T>C | ENSP00000513999.1:p.Asp257= | |
| ENST00000698875.1:n.1171T>C | ||
| ENST00000698876.1:n.1250T>C | ||
| ENST00000698877.1:n.879T>C | ||
| ENST00000698878.1:c.1311T>C | ENSP00000514000.1:p.Asp437= | |
| ENST00000698880.1:c.1151T>C | ||
| ENST00000345728.10:c.1311T>C MANE Select | ENSP00000339950.5:p.Asp437= | |
| ENST00000279227.9:c.1323T>C | ENSP00000279227.5:p.Asp441= | |
| ENST00000345728.9:c.1311T>C | ENSP00000339950.5:p.Asp437= | |
| ENST00000540957.1:n.464T>C | ||
| ENST00000541326.5:n.618T>C | ||
| NM_031471.5:c.1311T>C | NP_113659.3:p.Asp437= | |
| NM_178443.2:c.1323T>C , LRG_180t1:c.1323T>C | NP_848537.1:p.Asp441= | |
| XM_011545294.1:c.1323T>C | XP_011543596.1:p.Asp441= | |
| XM_011545295.1:c.783T>C | XP_011543597.1:p.Asp261= | |
| XM_011545296.1:c.783T>C | XP_011543598.1:p.Asp261= | |
| XM_011545294.3:c.1323T>C | XP_011543596.1:p.Asp441= | |
| XM_011545295.2:c.783T>C | XP_011543597.1:p.Asp261= | |
| XM_017018398.2:c.1311T>C | XP_016873887.1:p.Asp437= | |
| XM_017018399.1:c.771T>C | XP_016873888.1:p.Asp257= | |
| NM_031471.6:c.1311T>C MANE Select | NP_113659.3:p.Asp437= | |
| NM_001382361.1:c.1311T>C | NP_001369290.1:p.Asp437= | |
| NM_001382362.1:c.1323T>C | NP_001369291.1:p.Asp441= | |
| NM_001382363.1:c.771T>C | NP_001369292.1:p.Asp257= | |
| NM_001382364.1:c.783T>C | NP_001369293.1:p.Asp261= | |
| NM_001382448.1:c.1311T>C | NP_001369377.1:p.Asp437= | |
| NM_178443.3:c.1323T>C | NP_848537.1:p.Asp441= |