Linked Data
dbSNP Id:
rs184609471
ExAC:
11:63990580 C / G
gnomAD v2:
11-63990580-C-G
gnomAD v4:
11-64223108-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223108C>G , CM000673.2:g.64223108C>G | GRCh38 |
| NC_000011.9:g.63990580C>G , CM000673.1:g.63990580C>G | GRCh37 |
| NC_000011.8:g.63747156C>G | NCBI36 |
| NG_016360.1:g.21429C>G , LRG_180:g.21429C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1743C>G | ENSP00000279227.5:p.Ile581Met | |
| ENST00000540554.2:n.3255C>G | ||
| ENST00000541252.2:c.1191C>G | ENSP00000438885.2:p.Ile397Met | |
| ENST00000544997.6:c.1731C>G | ENSP00000445778.2:p.Ile577Met | |
| ENST00000545896.2:c.295C>G | ENSP00000440209.2:p.Arg99Gly | |
| ENST00000546255.2:n.2035C>G | ||
| ENST00000698845.1:c.*926C>G | ENSP00000513981.1:n.*926C>G | |
| ENST00000698846.1:n.1977C>G | ||
| ENST00000698847.1:c.*1136C>G | ENSP00000513982.1:n.*1136C>G | |
| ENST00000698850.1:n.3752C>G | ||
| ENST00000698852.1:c.1731C>G | ENSP00000513984.1:p.Ile577Met | |
| ENST00000698853.1:c.*960C>G | ENSP00000513985.1:n.*960C>G | |
| ENST00000698854.1:c.*1061C>G | ENSP00000513986.1:n.*1061C>G | |
| ENST00000698855.1:n.3383C>G | ||
| ENST00000698856.1:n.3077C>G | ||
| ENST00000698859.1:n.2241C>G | ||
| ENST00000698860.1:c.1743C>G | ENSP00000513988.1:p.Ile581Met | |
| ENST00000698861.1:c.1731C>G | ENSP00000513989.1:p.Ile577Met | |
| ENST00000698862.1:c.*1027C>G | ENSP00000513990.1:n.*1027C>G | |
| ENST00000698863.1:c.1731C>G | ENSP00000513991.1:p.Ile577Met | |
| ENST00000698864.1:n.2292C>G | ||
| ENST00000698865.1:c.1752C>G | ENSP00000513992.1:p.Ile584Met | |
| ENST00000698866.1:c.*1519C>G | ENSP00000513993.1:n.*1519C>G | |
| ENST00000698867.1:n.5706C>G | ||
| ENST00000698868.1:c.1596C>G | ENSP00000513994.1:p.Ile532Met | |
| ENST00000698869.1:c.1497C>G | ENSP00000513995.1:p.Ile499Met | |
| ENST00000698870.1:c.1731C>G | ENSP00000513996.1:p.Ile577Met | |
| ENST00000698871.1:n.2254C>G | ||
| ENST00000698872.1:c.*520C>G | ENSP00000513997.1:n.*520C>G | |
| ENST00000698873.1:c.*926C>G | ENSP00000513998.1:n.*926C>G | |
| ENST00000698874.1:c.1191C>G | ENSP00000513999.1:p.Ile397Met | |
| ENST00000698875.1:n.1591C>G | ||
| ENST00000698876.1:n.1779C>G | ||
| ENST00000698877.1:n.1299C>G | ||
| ENST00000698878.1:c.1725C>G | ENSP00000514000.1:p.Ile575Met | |
| ENST00000698880.1:c.1599C>G | ||
| ENST00000345728.10:c.1731C>G MANE Select | ENSP00000339950.5:p.Ile577Met | |
| ENST00000279227.9:c.1743C>G | ENSP00000279227.5:p.Ile581Met | |
| ENST00000345728.9:c.1731C>G | ENSP00000339950.5:p.Ile577Met | |
| ENST00000540554.1:n.367C>G | ||
| ENST00000545896.1:c.294C>G | ENSP00000440209.1:p.Ile98Met | |
| NM_031471.5:c.1731C>G | NP_113659.3:p.Ile577Met | |
| NM_178443.2:c.1743C>G , LRG_180t1:c.1743C>G | NP_848537.1:p.Ile581Met | |
| XM_011545294.1:c.1743C>G | XP_011543596.1:p.Ile581Met | |
| XM_011545295.1:c.1203C>G | XP_011543597.1:p.Ile401Met | |
| XM_011545296.1:c.1203C>G | XP_011543598.1:p.Ile401Met | |
| XM_011545294.3:c.1743C>G | XP_011543596.1:p.Ile581Met | |
| XM_011545295.2:c.1203C>G | XP_011543597.1:p.Ile401Met | |
| XM_017018398.2:c.1731C>G | XP_016873887.1:p.Ile577Met | |
| XM_017018399.1:c.1191C>G | XP_016873888.1:p.Ile397Met | |
| NM_031471.6:c.1731C>G MANE Select | NP_113659.3:p.Ile577Met | |
| NM_001382361.1:c.1731C>G | NP_001369290.1:p.Ile577Met | |
| NM_001382362.1:c.1743C>G | NP_001369291.1:p.Ile581Met | |
| NM_001382363.1:c.1191C>G | NP_001369292.1:p.Ile397Met | |
| NM_001382364.1:c.1203C>G | NP_001369293.1:p.Ile401Met | |
| NM_001382448.1:c.1731C>G | NP_001369377.1:p.Ile577Met | |
| NM_178443.3:c.1743C>G | NP_848537.1:p.Ile581Met |