Linked Data
dbSNP Id:
rs1024674833
gnomAD v2:
11-63990582-A-C
gnomAD v3:
11-64223110-A-C
gnomAD v4:
11-64223110-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223110A>C , CM000673.2:g.64223110A>C | GRCh38 |
| NC_000011.9:g.63990582A>C , CM000673.1:g.63990582A>C | GRCh37 |
| NC_000011.8:g.63747158A>C | NCBI36 |
| NG_016360.1:g.21431A>C , LRG_180:g.21431A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1745A>C | ENSP00000279227.5:p.Asp582Ala | |
| ENST00000540554.2:n.3257A>C | ||
| ENST00000541252.2:c.1193A>C | ENSP00000438885.2:p.Asp398Ala | |
| ENST00000544997.6:c.1733A>C | ENSP00000445778.2:p.Asp578Ala | |
| ENST00000545896.2:c.297A>C | ENSP00000440209.2:p.Arg99= | |
| ENST00000546255.2:n.2037A>C | ||
| ENST00000698845.1:c.*928A>C | ENSP00000513981.1:n.*928A>C | |
| ENST00000698846.1:n.1979A>C | ||
| ENST00000698847.1:c.*1138A>C | ENSP00000513982.1:n.*1138A>C | |
| ENST00000698850.1:n.3754A>C | ||
| ENST00000698852.1:c.1733A>C | ENSP00000513984.1:p.Asp578Ala | |
| ENST00000698853.1:c.*962A>C | ENSP00000513985.1:n.*962A>C | |
| ENST00000698854.1:c.*1063A>C | ENSP00000513986.1:n.*1063A>C | |
| ENST00000698855.1:n.3385A>C | ||
| ENST00000698856.1:n.3079A>C | ||
| ENST00000698859.1:n.2243A>C | ||
| ENST00000698860.1:c.1745A>C | ENSP00000513988.1:p.Asp582Ala | |
| ENST00000698861.1:c.1733A>C | ENSP00000513989.1:p.Asp578Ala | |
| ENST00000698862.1:c.*1029A>C | ENSP00000513990.1:n.*1029A>C | |
| ENST00000698863.1:c.1733A>C | ENSP00000513991.1:p.Asp578Ala | |
| ENST00000698864.1:n.2294A>C | ||
| ENST00000698865.1:c.1754A>C | ENSP00000513992.1:p.Asp585Ala | |
| ENST00000698866.1:c.*1521A>C | ENSP00000513993.1:n.*1521A>C | |
| ENST00000698867.1:n.5708A>C | ||
| ENST00000698868.1:c.1598A>C | ENSP00000513994.1:p.Asp533Ala | |
| ENST00000698869.1:c.1499A>C | ENSP00000513995.1:p.Asp500Ala | |
| ENST00000698870.1:c.1733A>C | ENSP00000513996.1:p.Asp578Ala | |
| ENST00000698871.1:n.2256A>C | ||
| ENST00000698872.1:c.*522A>C | ENSP00000513997.1:n.*522A>C | |
| ENST00000698873.1:c.*928A>C | ENSP00000513998.1:n.*928A>C | |
| ENST00000698874.1:c.1193A>C | ENSP00000513999.1:p.Asp398Ala | |
| ENST00000698875.1:n.1593A>C | ||
| ENST00000698876.1:n.1781A>C | ||
| ENST00000698877.1:n.1301A>C | ||
| ENST00000698878.1:c.1727A>C | ENSP00000514000.1:p.Asp576Ala | |
| ENST00000698880.1:c.1601A>C | ||
| ENST00000345728.10:c.1733A>C MANE Select | ENSP00000339950.5:p.Asp578Ala | |
| ENST00000279227.9:c.1745A>C | ENSP00000279227.5:p.Asp582Ala | |
| ENST00000345728.9:c.1733A>C | ENSP00000339950.5:p.Asp578Ala | |
| ENST00000540554.1:n.369A>C | ||
| ENST00000545896.1:c.296A>C | ENSP00000440209.1:p.Asp99Ala | |
| NM_031471.5:c.1733A>C | NP_113659.3:p.Asp578Ala | |
| NM_178443.2:c.1745A>C , LRG_180t1:c.1745A>C | NP_848537.1:p.Asp582Ala | |
| XM_011545294.1:c.1745A>C | XP_011543596.1:p.Asp582Ala | |
| XM_011545295.1:c.1205A>C | XP_011543597.1:p.Asp402Ala | |
| XM_011545296.1:c.1205A>C | XP_011543598.1:p.Asp402Ala | |
| XM_011545294.3:c.1745A>C | XP_011543596.1:p.Asp582Ala | |
| XM_011545295.2:c.1205A>C | XP_011543597.1:p.Asp402Ala | |
| XM_017018398.2:c.1733A>C | XP_016873887.1:p.Asp578Ala | |
| XM_017018399.1:c.1193A>C | XP_016873888.1:p.Asp398Ala | |
| NM_031471.6:c.1733A>C MANE Select | NP_113659.3:p.Asp578Ala | |
| NM_001382361.1:c.1733A>C | NP_001369290.1:p.Asp578Ala | |
| NM_001382362.1:c.1745A>C | NP_001369291.1:p.Asp582Ala | |
| NM_001382363.1:c.1193A>C | NP_001369292.1:p.Asp398Ala | |
| NM_001382364.1:c.1205A>C | NP_001369293.1:p.Asp402Ala | |
| NM_001382448.1:c.1733A>C | NP_001369377.1:p.Asp578Ala | |
| NM_178443.3:c.1745A>C | NP_848537.1:p.Asp582Ala |