Linked Data
ClinVar Variation Id:
855380
ClinVar RCV Id:
RCV001060639
dbSNP Id:
rs773617643
gnomAD v4:
11-64220628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220628C>T , CM000673.2:g.64220628C>T | GRCh38 |
| NC_000011.9:g.63988100C>T , CM000673.1:g.63988100C>T | GRCh37 |
| NC_000011.8:g.63744676C>T | NCBI36 |
| NG_016360.1:g.18949C>T , LRG_180:g.18949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1516C>T | ENSP00000279227.5:p.Leu506Phe | |
| ENST00000540554.2:n.2682C>T | ||
| ENST00000541252.2:c.964C>T | ENSP00000438885.2:p.Leu322Phe | |
| ENST00000541326.6:n.925C>T | ||
| ENST00000544997.6:c.1504C>T | ENSP00000445778.2:p.Leu502Phe | |
| ENST00000545896.2:c.193C>T | ENSP00000440209.2:p.Leu65Phe | |
| ENST00000546255.2:n.1808C>T | ||
| ENST00000698845.1:c.*699C>T | ENSP00000513981.1:n.*699C>T | |
| ENST00000698846.1:n.1750C>T | ||
| ENST00000698847.1:c.*909C>T | ENSP00000513982.1:n.*909C>T | |
| ENST00000698849.1:n.624C>T | ||
| ENST00000698850.1:n.1272C>T | ||
| ENST00000698852.1:c.1504C>T | ENSP00000513984.1:p.Leu502Phe | |
| ENST00000698853.1:c.*733C>T | ENSP00000513985.1:n.*733C>T | |
| ENST00000698854.1:c.*834C>T | ENSP00000513986.1:n.*834C>T | |
| ENST00000698855.1:n.3156C>T | ||
| ENST00000698856.1:n.2850C>T | ||
| ENST00000698859.1:n.1668C>T | ||
| ENST00000698860.1:c.1516C>T | ENSP00000513988.1:p.Leu506Phe | |
| ENST00000698861.1:c.1504C>T | ENSP00000513989.1:p.Leu502Phe | |
| ENST00000698862.1:c.*800C>T | ENSP00000513990.1:n.*800C>T | |
| ENST00000698863.1:c.1504C>T | ENSP00000513991.1:p.Leu502Phe | |
| ENST00000698864.1:n.1719C>T | ||
| ENST00000698865.1:c.1525C>T | ENSP00000513992.1:p.Leu509Phe | |
| ENST00000698866.1:c.*1018C>T | ENSP00000513993.1:n.*1018C>T | |
| ENST00000698867.1:n.5479C>T | ||
| ENST00000698868.1:c.1369C>T | ENSP00000513994.1:p.Leu457Phe | |
| ENST00000698869.1:c.1311+302C>T | ENSP00000513995.1:n.1311+302C>T | |
| ENST00000698870.1:c.1504C>T | ENSP00000513996.1:p.Leu502Phe | |
| ENST00000698871.1:n.2027C>T | ||
| ENST00000698872.1:c.*293C>T | ENSP00000513997.1:n.*293C>T | |
| ENST00000698873.1:c.*699C>T | ENSP00000513998.1:n.*699C>T | |
| ENST00000698874.1:c.964C>T | ENSP00000513999.1:p.Leu322Phe | |
| ENST00000698875.1:n.1364C>T | ||
| ENST00000698876.1:n.1552C>T | ||
| ENST00000698877.1:n.1072C>T | ||
| ENST00000698878.1:c.1498C>T | ENSP00000514000.1:p.Leu500Phe | |
| ENST00000698880.1:c.1372C>T | ||
| ENST00000345728.10:c.1504C>T MANE Select | ENSP00000339950.5:p.Leu502Phe | |
| ENST00000279227.9:c.1516C>T | ENSP00000279227.5:p.Leu506Phe | |
| ENST00000345728.9:c.1504C>T | ENSP00000339950.5:p.Leu502Phe | |
| ENST00000545896.1:c.192C>T | ENSP00000440209.1:p.Ala64= | |
| NM_031471.5:c.1504C>T | NP_113659.3:p.Leu502Phe | |
| NM_178443.2:c.1516C>T , LRG_180t1:c.1516C>T | NP_848537.1:p.Leu506Phe | |
| XM_011545294.1:c.1516C>T | XP_011543596.1:p.Leu506Phe | |
| XM_011545295.1:c.976C>T | XP_011543597.1:p.Leu326Phe | |
| XM_011545296.1:c.976C>T | XP_011543598.1:p.Leu326Phe | |
| XM_011545294.3:c.1516C>T | XP_011543596.1:p.Leu506Phe | |
| XM_011545295.2:c.976C>T | XP_011543597.1:p.Leu326Phe | |
| XM_017018398.2:c.1504C>T | XP_016873887.1:p.Leu502Phe | |
| XM_017018399.1:c.964C>T | XP_016873888.1:p.Leu322Phe | |
| NM_031471.6:c.1504C>T MANE Select | NP_113659.3:p.Leu502Phe | |
| NM_001382361.1:c.1504C>T | NP_001369290.1:p.Leu502Phe | |
| NM_001382362.1:c.1516C>T | NP_001369291.1:p.Leu506Phe | |
| NM_001382363.1:c.964C>T | NP_001369292.1:p.Leu322Phe | |
| NM_001382364.1:c.976C>T | NP_001369293.1:p.Leu326Phe | |
| NM_001382448.1:c.1504C>T | NP_001369377.1:p.Leu502Phe | |
| NM_178443.3:c.1516C>T | NP_848537.1:p.Leu506Phe |