Linked Data
dbSNP Id:
rs780712218
ExAC:
11:63990563 A / G
gnomAD v2:
11-63990563-A-G
gnomAD v4:
11-64223091-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223091A>G , CM000673.2:g.64223091A>G | GRCh38 |
| NC_000011.9:g.63990563A>G , CM000673.1:g.63990563A>G | GRCh37 |
| NC_000011.8:g.63747139A>G | NCBI36 |
| NG_016360.1:g.21412A>G , LRG_180:g.21412A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1726A>G | ENSP00000279227.5:p.Asn576Asp | |
| ENST00000540554.2:n.3238A>G | ||
| ENST00000541252.2:c.1174A>G | ENSP00000438885.2:p.Asn392Asp | |
| ENST00000544997.6:c.1714A>G | ENSP00000445778.2:p.Asn572Asp | |
| ENST00000545896.2:c.278A>G | ENSP00000440209.2:p.Gln93Arg | |
| ENST00000546255.2:n.2018A>G | ||
| ENST00000698845.1:c.*909A>G | ENSP00000513981.1:n.*909A>G | |
| ENST00000698846.1:n.1960A>G | ||
| ENST00000698847.1:c.*1119A>G | ENSP00000513982.1:n.*1119A>G | |
| ENST00000698850.1:n.3735A>G | ||
| ENST00000698852.1:c.1714A>G | ENSP00000513984.1:p.Asn572Asp | |
| ENST00000698853.1:c.*943A>G | ENSP00000513985.1:n.*943A>G | |
| ENST00000698854.1:c.*1044A>G | ENSP00000513986.1:n.*1044A>G | |
| ENST00000698855.1:n.3366A>G | ||
| ENST00000698856.1:n.3060A>G | ||
| ENST00000698859.1:n.2224A>G | ||
| ENST00000698860.1:c.1726A>G | ENSP00000513988.1:p.Asn576Asp | |
| ENST00000698861.1:c.1714A>G | ENSP00000513989.1:p.Asn572Asp | |
| ENST00000698862.1:c.*1010A>G | ENSP00000513990.1:n.*1010A>G | |
| ENST00000698863.1:c.1714A>G | ENSP00000513991.1:p.Asn572Asp | |
| ENST00000698864.1:n.2275A>G | ||
| ENST00000698865.1:c.1735A>G | ENSP00000513992.1:p.Asn579Asp | |
| ENST00000698866.1:c.*1502A>G | ENSP00000513993.1:n.*1502A>G | |
| ENST00000698867.1:n.5689A>G | ||
| ENST00000698868.1:c.1579A>G | ENSP00000513994.1:p.Asn527Asp | |
| ENST00000698869.1:c.1480A>G | ENSP00000513995.1:p.Asn494Asp | |
| ENST00000698870.1:c.1714A>G | ENSP00000513996.1:p.Asn572Asp | |
| ENST00000698871.1:n.2237A>G | ||
| ENST00000698872.1:c.*503A>G | ENSP00000513997.1:n.*503A>G | |
| ENST00000698873.1:c.*909A>G | ENSP00000513998.1:n.*909A>G | |
| ENST00000698874.1:c.1174A>G | ENSP00000513999.1:p.Asn392Asp | |
| ENST00000698875.1:n.1574A>G | ||
| ENST00000698876.1:n.1762A>G | ||
| ENST00000698877.1:n.1282A>G | ||
| ENST00000698878.1:c.1708A>G | ENSP00000514000.1:p.Asn570Asp | |
| ENST00000698880.1:c.1582A>G | ||
| ENST00000345728.10:c.1714A>G MANE Select | ENSP00000339950.5:p.Asn572Asp | |
| ENST00000279227.9:c.1726A>G | ENSP00000279227.5:p.Asn576Asp | |
| ENST00000345728.9:c.1714A>G | ENSP00000339950.5:p.Asn572Asp | |
| ENST00000540554.1:n.350A>G | ||
| ENST00000545896.1:c.277A>G | ENSP00000440209.1:p.Asn93Asp | |
| NM_031471.5:c.1714A>G | NP_113659.3:p.Asn572Asp | |
| NM_178443.2:c.1726A>G , LRG_180t1:c.1726A>G | NP_848537.1:p.Asn576Asp | |
| XM_011545294.1:c.1726A>G | XP_011543596.1:p.Asn576Asp | |
| XM_011545295.1:c.1186A>G | XP_011543597.1:p.Asn396Asp | |
| XM_011545296.1:c.1186A>G | XP_011543598.1:p.Asn396Asp | |
| XM_011545294.3:c.1726A>G | XP_011543596.1:p.Asn576Asp | |
| XM_011545295.2:c.1186A>G | XP_011543597.1:p.Asn396Asp | |
| XM_017018398.2:c.1714A>G | XP_016873887.1:p.Asn572Asp | |
| XM_017018399.1:c.1174A>G | XP_016873888.1:p.Asn392Asp | |
| NM_031471.6:c.1714A>G MANE Select | NP_113659.3:p.Asn572Asp | |
| NM_001382361.1:c.1714A>G | NP_001369290.1:p.Asn572Asp | |
| NM_001382362.1:c.1726A>G | NP_001369291.1:p.Asn576Asp | |
| NM_001382363.1:c.1174A>G | NP_001369292.1:p.Asn392Asp | |
| NM_001382364.1:c.1186A>G | NP_001369293.1:p.Asn396Asp | |
| NM_001382448.1:c.1714A>G | NP_001369377.1:p.Asn572Asp | |
| NM_178443.3:c.1726A>G | NP_848537.1:p.Asn576Asp |