Linked Data
dbSNP Id:
rs148559713
ExAC:
11:63990538 A / G
gnomAD v2:
11-63990538-A-G
gnomAD v3:
11-64223066-A-G
gnomAD v4:
11-64223066-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223066A>G , CM000673.2:g.64223066A>G | GRCh38 |
| NC_000011.9:g.63990538A>G , CM000673.1:g.63990538A>G | GRCh37 |
| NC_000011.8:g.63747114A>G | NCBI36 |
| NG_016360.1:g.21387A>G , LRG_180:g.21387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1701A>G | ENSP00000279227.5:p.Lys567= | |
| ENST00000540554.2:n.3213A>G | ||
| ENST00000541252.2:c.1149A>G | ENSP00000438885.2:p.Lys383= | |
| ENST00000544997.6:c.1689A>G | ENSP00000445778.2:p.Lys563= | |
| ENST00000545896.2:c.253A>G | ENSP00000440209.2:p.Arg85Gly | |
| ENST00000546255.2:n.1993A>G | ||
| ENST00000698845.1:c.*884A>G | ENSP00000513981.1:n.*884A>G | |
| ENST00000698846.1:n.1935A>G | ||
| ENST00000698847.1:c.*1094A>G | ENSP00000513982.1:n.*1094A>G | |
| ENST00000698850.1:n.3710A>G | ||
| ENST00000698852.1:c.1689A>G | ENSP00000513984.1:p.Lys563= | |
| ENST00000698853.1:c.*918A>G | ENSP00000513985.1:n.*918A>G | |
| ENST00000698854.1:c.*1019A>G | ENSP00000513986.1:n.*1019A>G | |
| ENST00000698855.1:n.3341A>G | ||
| ENST00000698856.1:n.3035A>G | ||
| ENST00000698859.1:n.2199A>G | ||
| ENST00000698860.1:c.1701A>G | ENSP00000513988.1:p.Lys567= | |
| ENST00000698861.1:c.1689A>G | ENSP00000513989.1:p.Lys563= | |
| ENST00000698862.1:c.*985A>G | ENSP00000513990.1:n.*985A>G | |
| ENST00000698863.1:c.1689A>G | ENSP00000513991.1:p.Lys563= | |
| ENST00000698864.1:n.2250A>G | ||
| ENST00000698865.1:c.1710A>G | ENSP00000513992.1:p.Lys570= | |
| ENST00000698866.1:c.*1477A>G | ENSP00000513993.1:n.*1477A>G | |
| ENST00000698867.1:n.5664A>G | ||
| ENST00000698868.1:c.1554A>G | ENSP00000513994.1:p.Lys518= | |
| ENST00000698869.1:c.1455A>G | ENSP00000513995.1:p.Lys485= | |
| ENST00000698870.1:c.1689A>G | ENSP00000513996.1:p.Lys563= | |
| ENST00000698871.1:n.2212A>G | ||
| ENST00000698872.1:c.*478A>G | ENSP00000513997.1:n.*478A>G | |
| ENST00000698873.1:c.*884A>G | ENSP00000513998.1:n.*884A>G | |
| ENST00000698874.1:c.1149A>G | ENSP00000513999.1:p.Lys383= | |
| ENST00000698875.1:n.1549A>G | ||
| ENST00000698876.1:n.1737A>G | ||
| ENST00000698877.1:n.1257A>G | ||
| ENST00000698878.1:c.1683A>G | ENSP00000514000.1:p.Lys561= | |
| ENST00000698880.1:c.1557A>G | ||
| ENST00000345728.10:c.1689A>G MANE Select | ENSP00000339950.5:p.Lys563= | |
| ENST00000279227.9:c.1701A>G | ENSP00000279227.5:p.Lys567= | |
| ENST00000345728.9:c.1689A>G | ENSP00000339950.5:p.Lys563= | |
| ENST00000540554.1:n.325A>G | ||
| ENST00000545896.1:c.252A>G | ENSP00000440209.1:p.Lys84= | |
| NM_031471.5:c.1689A>G | NP_113659.3:p.Lys563= | |
| NM_178443.2:c.1701A>G , LRG_180t1:c.1701A>G | NP_848537.1:p.Lys567= | |
| XM_011545294.1:c.1701A>G | XP_011543596.1:p.Lys567= | |
| XM_011545295.1:c.1161A>G | XP_011543597.1:p.Lys387= | |
| XM_011545296.1:c.1161A>G | XP_011543598.1:p.Lys387= | |
| XM_011545294.3:c.1701A>G | XP_011543596.1:p.Lys567= | |
| XM_011545295.2:c.1161A>G | XP_011543597.1:p.Lys387= | |
| XM_017018398.2:c.1689A>G | XP_016873887.1:p.Lys563= | |
| XM_017018399.1:c.1149A>G | XP_016873888.1:p.Lys383= | |
| NM_031471.6:c.1689A>G MANE Select | NP_113659.3:p.Lys563= | |
| NM_001382361.1:c.1689A>G | NP_001369290.1:p.Lys563= | |
| NM_001382362.1:c.1701A>G | NP_001369291.1:p.Lys567= | |
| NM_001382363.1:c.1149A>G | NP_001369292.1:p.Lys383= | |
| NM_001382364.1:c.1161A>G | NP_001369293.1:p.Lys387= | |
| NM_001382448.1:c.1689A>G | NP_001369377.1:p.Lys563= | |
| NM_178443.3:c.1701A>G | NP_848537.1:p.Lys567= |