Linked Data
ClinVar Variation Id:
2189321
ClinVar RCV Id:
RCV002607269
dbSNP Id:
rs1351291515
gnomAD v2:
11-63990656-C-T
gnomAD v3:
11-64223184-C-T
gnomAD v4:
11-64223184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223184C>T , CM000673.2:g.64223184C>T | GRCh38 |
| NC_000011.9:g.63990656C>T , CM000673.1:g.63990656C>T | GRCh37 |
| NC_000011.8:g.63747232C>T | NCBI36 |
| NG_016360.1:g.21505C>T , LRG_180:g.21505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1819C>T | ENSP00000279227.5:p.Arg607Trp | |
| ENST00000540554.2:n.3331C>T | ||
| ENST00000541252.2:c.1267C>T | ENSP00000438885.2:p.Arg423Trp | |
| ENST00000544997.6:c.1807C>T | ENSP00000445778.2:p.Arg603Trp | |
| ENST00000545896.2:c.371C>T | ENSP00000440209.2:p.Pro124Leu | |
| ENST00000546255.2:n.2111C>T | ||
| ENST00000698845.1:c.*1002C>T | ENSP00000513981.1:n.*1002C>T | |
| ENST00000698846.1:n.2053C>T | ||
| ENST00000698847.1:c.*1212C>T | ENSP00000513982.1:n.*1212C>T | |
| ENST00000698850.1:n.3828C>T | ||
| ENST00000698852.1:c.1807C>T | ENSP00000513984.1:p.Arg603Trp | |
| ENST00000698853.1:c.*1036C>T | ENSP00000513985.1:n.*1036C>T | |
| ENST00000698854.1:c.*1137C>T | ENSP00000513986.1:n.*1137C>T | |
| ENST00000698855.1:n.3459C>T | ||
| ENST00000698856.1:n.3153C>T | ||
| ENST00000698859.1:n.2317C>T | ||
| ENST00000698860.1:c.1819C>T | ENSP00000513988.1:p.Arg607Trp | |
| ENST00000698861.1:c.1807C>T | ENSP00000513989.1:p.Arg603Trp | |
| ENST00000698862.1:c.*1103C>T | ENSP00000513990.1:n.*1103C>T | |
| ENST00000698863.1:c.1807C>T | ENSP00000513991.1:p.Arg603Trp | |
| ENST00000698864.1:n.2368C>T | ||
| ENST00000698865.1:c.1828C>T | ENSP00000513992.1:p.Arg610Trp | |
| ENST00000698866.1:c.*1595C>T | ENSP00000513993.1:n.*1595C>T | |
| ENST00000698867.1:n.5782C>T | ||
| ENST00000698868.1:c.1672C>T | ENSP00000513994.1:p.Arg558Trp | |
| ENST00000698869.1:c.1573C>T | ENSP00000513995.1:p.Arg525Trp | |
| ENST00000698870.1:c.1807C>T | ENSP00000513996.1:p.Arg603Trp | |
| ENST00000698871.1:n.2330C>T | ||
| ENST00000698872.1:c.*596C>T | ENSP00000513997.1:n.*596C>T | |
| ENST00000698873.1:c.*1002C>T | ENSP00000513998.1:n.*1002C>T | |
| ENST00000698874.1:c.1267C>T | ENSP00000513999.1:p.Arg423Trp | |
| ENST00000698875.1:n.1667C>T | ||
| ENST00000698876.1:n.1855C>T | ||
| ENST00000698877.1:n.1375C>T | ||
| ENST00000698878.1:c.1801C>T | ENSP00000514000.1:p.Arg601Trp | |
| ENST00000698880.1:c.1675C>T | ||
| ENST00000345728.10:c.1807C>T MANE Select | ENSP00000339950.5:p.Arg603Trp | |
| ENST00000279227.9:c.1819C>T | ENSP00000279227.5:p.Arg607Trp | |
| ENST00000345728.9:c.1807C>T | ENSP00000339950.5:p.Arg603Trp | |
| ENST00000545896.1:c.370C>T | ENSP00000440209.1:p.Arg124Trp | |
| NM_031471.5:c.1807C>T | NP_113659.3:p.Arg603Trp | |
| NM_178443.2:c.1819C>T , LRG_180t1:c.1819C>T | NP_848537.1:p.Arg607Trp | |
| XM_011545294.1:c.1819C>T | XP_011543596.1:p.Arg607Trp | |
| XM_011545295.1:c.1279C>T | XP_011543597.1:p.Arg427Trp | |
| XM_011545296.1:c.1279C>T | XP_011543598.1:p.Arg427Trp | |
| XM_011545294.3:c.1819C>T | XP_011543596.1:p.Arg607Trp | |
| XM_011545295.2:c.1279C>T | XP_011543597.1:p.Arg427Trp | |
| XM_017018398.2:c.1807C>T | XP_016873887.1:p.Arg603Trp | |
| XM_017018399.1:c.1267C>T | XP_016873888.1:p.Arg423Trp | |
| NM_031471.6:c.1807C>T MANE Select | NP_113659.3:p.Arg603Trp | |
| NM_001382361.1:c.1807C>T | NP_001369290.1:p.Arg603Trp | |
| NM_001382362.1:c.1819C>T | NP_001369291.1:p.Arg607Trp | |
| NM_001382363.1:c.1267C>T | NP_001369292.1:p.Arg423Trp | |
| NM_001382364.1:c.1279C>T | NP_001369293.1:p.Arg427Trp | |
| NM_001382448.1:c.1807C>T | NP_001369377.1:p.Arg603Trp | |
| NM_178443.3:c.1819C>T | NP_848537.1:p.Arg607Trp |