Linked Data
ClinVar Variation Id:
2491380
ClinVar RCV Id:
RCV003195808
dbSNP Id:
rs1423832924
gnomAD v3:
11-64220240-G-A
gnomAD v4:
11-64220240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220240G>A , CM000673.2:g.64220240G>A | GRCh38 |
| NC_000011.9:g.63987712G>A , CM000673.1:g.63987712G>A | GRCh37 |
| NC_000011.8:g.63744288G>A | NCBI36 |
| NG_016360.1:g.18561G>A , LRG_180:g.18561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1237G>A | ENSP00000279227.5:p.Val413Ile | |
| ENST00000540554.2:n.2294G>A | ||
| ENST00000541252.2:c.685G>A | ENSP00000438885.2:p.Val229Ile | |
| ENST00000541326.6:n.537G>A | ||
| ENST00000544997.6:c.1225G>A | ENSP00000445778.2:p.Val409Ile | |
| ENST00000546255.2:n.1420G>A | ||
| ENST00000698845.1:c.*420G>A | ENSP00000513981.1:n.*420G>A | |
| ENST00000698846.1:n.1362G>A | ||
| ENST00000698847.1:c.*630G>A | ENSP00000513982.1:n.*630G>A | |
| ENST00000698848.1:n.414G>A | ||
| ENST00000698849.1:n.345G>A | ||
| ENST00000698850.1:n.884G>A | ||
| ENST00000698852.1:c.1225G>A | ENSP00000513984.1:p.Val409Ile | |
| ENST00000698853.1:c.*454G>A | ENSP00000513985.1:n.*454G>A | |
| ENST00000698854.1:c.*555G>A | ENSP00000513986.1:n.*555G>A | |
| ENST00000698855.1:n.2877G>A | ||
| ENST00000698856.1:n.2462G>A | ||
| ENST00000698859.1:n.1389G>A | ||
| ENST00000698860.1:c.1237G>A | ENSP00000513988.1:p.Val413Ile | |
| ENST00000698861.1:c.1225G>A | ENSP00000513989.1:p.Val409Ile | |
| ENST00000698862.1:c.*521G>A | ENSP00000513990.1:n.*521G>A | |
| ENST00000698863.1:c.1225G>A | ENSP00000513991.1:p.Val409Ile | |
| ENST00000698864.1:n.1331G>A | ||
| ENST00000698865.1:c.1246G>A | ENSP00000513992.1:p.Val416Ile | |
| ENST00000698866.1:c.*630G>A | ENSP00000513993.1:n.*630G>A | |
| ENST00000698867.1:n.5200G>A | ||
| ENST00000698868.1:c.1090G>A | ENSP00000513994.1:p.Val364Ile | |
| ENST00000698869.1:c.1225G>A | ENSP00000513995.1:p.Val409Ile | |
| ENST00000698870.1:c.1225G>A | ENSP00000513996.1:p.Val409Ile | |
| ENST00000698871.1:n.1748G>A | ||
| ENST00000698872.1:c.*14G>A | ENSP00000513997.1:n.*14G>A | |
| ENST00000698873.1:c.*420G>A | ENSP00000513998.1:n.*420G>A | |
| ENST00000698874.1:c.685G>A | ENSP00000513999.1:p.Val229Ile | |
| ENST00000698875.1:n.1085G>A | ||
| ENST00000698876.1:n.1164G>A | ||
| ENST00000698877.1:n.793G>A | ||
| ENST00000698878.1:c.1225G>A | ENSP00000514000.1:p.Val409Ile | |
| ENST00000698880.1:c.1065G>A | ||
| ENST00000345728.10:c.1225G>A MANE Select | ENSP00000339950.5:p.Val409Ile | |
| ENST00000279227.9:c.1237G>A | ENSP00000279227.5:p.Val413Ile | |
| ENST00000345728.9:c.1225G>A | ENSP00000339950.5:p.Val409Ile | |
| ENST00000540957.1:n.378G>A | ||
| ENST00000541326.5:n.532G>A | ||
| NM_031471.5:c.1225G>A | NP_113659.3:p.Val409Ile | |
| NM_178443.2:c.1237G>A , LRG_180t1:c.1237G>A | NP_848537.1:p.Val413Ile | |
| XM_011545294.1:c.1237G>A | XP_011543596.1:p.Val413Ile | |
| XM_011545295.1:c.697G>A | XP_011543597.1:p.Val233Ile | |
| XM_011545296.1:c.697G>A | XP_011543598.1:p.Val233Ile | |
| XM_011545294.3:c.1237G>A | XP_011543596.1:p.Val413Ile | |
| XM_011545295.2:c.697G>A | XP_011543597.1:p.Val233Ile | |
| XM_017018398.2:c.1225G>A | XP_016873887.1:p.Val409Ile | |
| XM_017018399.1:c.685G>A | XP_016873888.1:p.Val229Ile | |
| NM_031471.6:c.1225G>A MANE Select | NP_113659.3:p.Val409Ile | |
| NM_001382361.1:c.1225G>A | NP_001369290.1:p.Val409Ile | |
| NM_001382362.1:c.1237G>A | NP_001369291.1:p.Val413Ile | |
| NM_001382363.1:c.685G>A | NP_001369292.1:p.Val229Ile | |
| NM_001382364.1:c.697G>A | NP_001369293.1:p.Val233Ile | |
| NM_001382448.1:c.1225G>A | NP_001369377.1:p.Val409Ile | |
| NM_178443.3:c.1237G>A | NP_848537.1:p.Val413Ile |