Linked Data
dbSNP Id:
rs780204043
ExAC:
11:63988086 T / G
gnomAD v2:
11-63988086-T-G
gnomAD v4:
11-64220614-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220614T>G , CM000673.2:g.64220614T>G | GRCh38 |
| NC_000011.9:g.63988086T>G , CM000673.1:g.63988086T>G | GRCh37 |
| NC_000011.8:g.63744662T>G | NCBI36 |
| NG_016360.1:g.18935T>G , LRG_180:g.18935T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1502T>G | ENSP00000279227.5:p.Leu501Arg | |
| ENST00000540554.2:n.2668T>G | ||
| ENST00000541252.2:c.950T>G | ENSP00000438885.2:p.Leu317Arg | |
| ENST00000541326.6:n.911T>G | ||
| ENST00000544997.6:c.1490T>G | ENSP00000445778.2:p.Leu497Arg | |
| ENST00000545896.2:c.179T>G | ENSP00000440209.2:p.Leu60Arg | |
| ENST00000546255.2:n.1794T>G | ||
| ENST00000698845.1:c.*685T>G | ENSP00000513981.1:n.*685T>G | |
| ENST00000698846.1:n.1736T>G | ||
| ENST00000698847.1:c.*895T>G | ENSP00000513982.1:n.*895T>G | |
| ENST00000698849.1:n.610T>G | ||
| ENST00000698850.1:n.1258T>G | ||
| ENST00000698852.1:c.1490T>G | ENSP00000513984.1:p.Leu497Arg | |
| ENST00000698853.1:c.*719T>G | ENSP00000513985.1:n.*719T>G | |
| ENST00000698854.1:c.*820T>G | ENSP00000513986.1:n.*820T>G | |
| ENST00000698855.1:n.3142T>G | ||
| ENST00000698856.1:n.2836T>G | ||
| ENST00000698859.1:n.1654T>G | ||
| ENST00000698860.1:c.1502T>G | ENSP00000513988.1:p.Leu501Arg | |
| ENST00000698861.1:c.1490T>G | ENSP00000513989.1:p.Leu497Arg | |
| ENST00000698862.1:c.*786T>G | ENSP00000513990.1:n.*786T>G | |
| ENST00000698863.1:c.1490T>G | ENSP00000513991.1:p.Leu497Arg | |
| ENST00000698864.1:n.1705T>G | ||
| ENST00000698865.1:c.1511T>G | ENSP00000513992.1:p.Leu504Arg | |
| ENST00000698866.1:c.*1004T>G | ENSP00000513993.1:n.*1004T>G | |
| ENST00000698867.1:n.5465T>G | ||
| ENST00000698868.1:c.1355T>G | ENSP00000513994.1:p.Leu452Arg | |
| ENST00000698869.1:c.1311+288T>G | ENSP00000513995.1:n.1311+288T>G | |
| ENST00000698870.1:c.1490T>G | ENSP00000513996.1:p.Leu497Arg | |
| ENST00000698871.1:n.2013T>G | ||
| ENST00000698872.1:c.*279T>G | ENSP00000513997.1:n.*279T>G | |
| ENST00000698873.1:c.*685T>G | ENSP00000513998.1:n.*685T>G | |
| ENST00000698874.1:c.950T>G | ENSP00000513999.1:p.Leu317Arg | |
| ENST00000698875.1:n.1350T>G | ||
| ENST00000698876.1:n.1538T>G | ||
| ENST00000698877.1:n.1058T>G | ||
| ENST00000698878.1:c.1484T>G | ENSP00000514000.1:p.Leu495Arg | |
| ENST00000698880.1:c.1358T>G | ||
| ENST00000345728.10:c.1490T>G MANE Select | ENSP00000339950.5:p.Leu497Arg | |
| ENST00000279227.9:c.1502T>G | ENSP00000279227.5:p.Leu501Arg | |
| ENST00000345728.9:c.1490T>G | ENSP00000339950.5:p.Leu497Arg | |
| ENST00000545896.1:c.178T>G | ENSP00000440209.1:p.Ser60Ala | |
| NM_031471.5:c.1490T>G | NP_113659.3:p.Leu497Arg | |
| NM_178443.2:c.1502T>G , LRG_180t1:c.1502T>G | NP_848537.1:p.Leu501Arg | |
| XM_011545294.1:c.1502T>G | XP_011543596.1:p.Leu501Arg | |
| XM_011545295.1:c.962T>G | XP_011543597.1:p.Leu321Arg | |
| XM_011545296.1:c.962T>G | XP_011543598.1:p.Leu321Arg | |
| XM_011545294.3:c.1502T>G | XP_011543596.1:p.Leu501Arg | |
| XM_011545295.2:c.962T>G | XP_011543597.1:p.Leu321Arg | |
| XM_017018398.2:c.1490T>G | XP_016873887.1:p.Leu497Arg | |
| XM_017018399.1:c.950T>G | XP_016873888.1:p.Leu317Arg | |
| NM_031471.6:c.1490T>G MANE Select | NP_113659.3:p.Leu497Arg | |
| NM_001382361.1:c.1490T>G | NP_001369290.1:p.Leu497Arg | |
| NM_001382362.1:c.1502T>G | NP_001369291.1:p.Leu501Arg | |
| NM_001382363.1:c.950T>G | NP_001369292.1:p.Leu317Arg | |
| NM_001382364.1:c.962T>G | NP_001369293.1:p.Leu321Arg | |
| NM_001382448.1:c.1490T>G | NP_001369377.1:p.Leu497Arg | |
| NM_178443.3:c.1502T>G | NP_848537.1:p.Leu501Arg |