Linked Data
dbSNP Id:
rs1314306445
gnomAD v2:
11-63990655-C-G
gnomAD v3:
11-64223183-C-G
gnomAD v4:
11-64223183-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223183C>G , CM000673.2:g.64223183C>G | GRCh38 |
| NC_000011.9:g.63990655C>G , CM000673.1:g.63990655C>G | GRCh37 |
| NC_000011.8:g.63747231C>G | NCBI36 |
| NG_016360.1:g.21504C>G , LRG_180:g.21504C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1818C>G | ENSP00000279227.5:p.Ile606Met | |
| ENST00000540554.2:n.3330C>G | ||
| ENST00000541252.2:c.1266C>G | ENSP00000438885.2:p.Ile422Met | |
| ENST00000544997.6:c.1806C>G | ENSP00000445778.2:p.Ile602Met | |
| ENST00000545896.2:c.370C>G | ENSP00000440209.2:p.Pro124Ala | |
| ENST00000546255.2:n.2110C>G | ||
| ENST00000698845.1:c.*1001C>G | ENSP00000513981.1:n.*1001C>G | |
| ENST00000698846.1:n.2052C>G | ||
| ENST00000698847.1:c.*1211C>G | ENSP00000513982.1:n.*1211C>G | |
| ENST00000698850.1:n.3827C>G | ||
| ENST00000698852.1:c.1806C>G | ENSP00000513984.1:p.Ile602Met | |
| ENST00000698853.1:c.*1035C>G | ENSP00000513985.1:n.*1035C>G | |
| ENST00000698854.1:c.*1136C>G | ENSP00000513986.1:n.*1136C>G | |
| ENST00000698855.1:n.3458C>G | ||
| ENST00000698856.1:n.3152C>G | ||
| ENST00000698859.1:n.2316C>G | ||
| ENST00000698860.1:c.1818C>G | ENSP00000513988.1:p.Ile606Met | |
| ENST00000698861.1:c.1806C>G | ENSP00000513989.1:p.Ile602Met | |
| ENST00000698862.1:c.*1102C>G | ENSP00000513990.1:n.*1102C>G | |
| ENST00000698863.1:c.1806C>G | ENSP00000513991.1:p.Ile602Met | |
| ENST00000698864.1:n.2367C>G | ||
| ENST00000698865.1:c.1827C>G | ENSP00000513992.1:p.Ile609Met | |
| ENST00000698866.1:c.*1594C>G | ENSP00000513993.1:n.*1594C>G | |
| ENST00000698867.1:n.5781C>G | ||
| ENST00000698868.1:c.1671C>G | ENSP00000513994.1:p.Ile557Met | |
| ENST00000698869.1:c.1572C>G | ENSP00000513995.1:p.Ile524Met | |
| ENST00000698870.1:c.1806C>G | ENSP00000513996.1:p.Ile602Met | |
| ENST00000698871.1:n.2329C>G | ||
| ENST00000698872.1:c.*595C>G | ENSP00000513997.1:n.*595C>G | |
| ENST00000698873.1:c.*1001C>G | ENSP00000513998.1:n.*1001C>G | |
| ENST00000698874.1:c.1266C>G | ENSP00000513999.1:p.Ile422Met | |
| ENST00000698875.1:n.1666C>G | ||
| ENST00000698876.1:n.1854C>G | ||
| ENST00000698877.1:n.1374C>G | ||
| ENST00000698878.1:c.1800C>G | ENSP00000514000.1:p.Ile600Met | |
| ENST00000698880.1:c.1674C>G | ||
| ENST00000345728.10:c.1806C>G MANE Select | ENSP00000339950.5:p.Ile602Met | |
| ENST00000279227.9:c.1818C>G | ENSP00000279227.5:p.Ile606Met | |
| ENST00000345728.9:c.1806C>G | ENSP00000339950.5:p.Ile602Met | |
| ENST00000545896.1:c.369C>G | ENSP00000440209.1:p.Ile123Met | |
| NM_031471.5:c.1806C>G | NP_113659.3:p.Ile602Met | |
| NM_178443.2:c.1818C>G , LRG_180t1:c.1818C>G | NP_848537.1:p.Ile606Met | |
| XM_011545294.1:c.1818C>G | XP_011543596.1:p.Ile606Met | |
| XM_011545295.1:c.1278C>G | XP_011543597.1:p.Ile426Met | |
| XM_011545296.1:c.1278C>G | XP_011543598.1:p.Ile426Met | |
| XM_011545294.3:c.1818C>G | XP_011543596.1:p.Ile606Met | |
| XM_011545295.2:c.1278C>G | XP_011543597.1:p.Ile426Met | |
| XM_017018398.2:c.1806C>G | XP_016873887.1:p.Ile602Met | |
| XM_017018399.1:c.1266C>G | XP_016873888.1:p.Ile422Met | |
| NM_031471.6:c.1806C>G MANE Select | NP_113659.3:p.Ile602Met | |
| NM_001382361.1:c.1806C>G | NP_001369290.1:p.Ile602Met | |
| NM_001382362.1:c.1818C>G | NP_001369291.1:p.Ile606Met | |
| NM_001382363.1:c.1266C>G | NP_001369292.1:p.Ile422Met | |
| NM_001382364.1:c.1278C>G | NP_001369293.1:p.Ile426Met | |
| NM_001382448.1:c.1806C>G | NP_001369377.1:p.Ile602Met | |
| NM_178443.3:c.1818C>G | NP_848537.1:p.Ile606Met |