Linked Data
ClinVar Variation Id:
1349732
ClinVar RCV Id:
RCV002039228
dbSNP Id:
rs772177008
ExAC:
11:63987734 T / G
gnomAD v2:
11-63987734-T-G
gnomAD v4:
11-64220262-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220262T>G , CM000673.2:g.64220262T>G | GRCh38 |
| NC_000011.9:g.63987734T>G , CM000673.1:g.63987734T>G | GRCh37 |
| NC_000011.8:g.63744310T>G | NCBI36 |
| NG_016360.1:g.18583T>G , LRG_180:g.18583T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1259T>G | ENSP00000279227.5:p.Phe420Cys | |
| ENST00000540554.2:n.2316T>G | ||
| ENST00000541252.2:c.707T>G | ENSP00000438885.2:p.Phe236Cys | |
| ENST00000541326.6:n.559T>G | ||
| ENST00000544997.6:c.1247T>G | ENSP00000445778.2:p.Phe416Cys | |
| ENST00000546255.2:n.1442T>G | ||
| ENST00000698845.1:c.*442T>G | ENSP00000513981.1:n.*442T>G | |
| ENST00000698846.1:n.1384T>G | ||
| ENST00000698847.1:c.*652T>G | ENSP00000513982.1:n.*652T>G | |
| ENST00000698848.1:n.436T>G | ||
| ENST00000698849.1:n.367T>G | ||
| ENST00000698850.1:n.906T>G | ||
| ENST00000698852.1:c.1247T>G | ENSP00000513984.1:p.Phe416Cys | |
| ENST00000698853.1:c.*476T>G | ENSP00000513985.1:n.*476T>G | |
| ENST00000698854.1:c.*577T>G | ENSP00000513986.1:n.*577T>G | |
| ENST00000698855.1:n.2899T>G | ||
| ENST00000698856.1:n.2484T>G | ||
| ENST00000698859.1:n.1411T>G | ||
| ENST00000698860.1:c.1259T>G | ENSP00000513988.1:p.Phe420Cys | |
| ENST00000698861.1:c.1247T>G | ENSP00000513989.1:p.Phe416Cys | |
| ENST00000698862.1:c.*543T>G | ENSP00000513990.1:n.*543T>G | |
| ENST00000698863.1:c.1247T>G | ENSP00000513991.1:p.Phe416Cys | |
| ENST00000698864.1:n.1353T>G | ||
| ENST00000698865.1:c.1268T>G | ENSP00000513992.1:p.Phe423Cys | |
| ENST00000698866.1:c.*652T>G | ENSP00000513993.1:n.*652T>G | |
| ENST00000698867.1:n.5222T>G | ||
| ENST00000698868.1:c.1112T>G | ENSP00000513994.1:p.Phe371Cys | |
| ENST00000698869.1:c.1247T>G | ENSP00000513995.1:p.Phe416Cys | |
| ENST00000698870.1:c.1247T>G | ENSP00000513996.1:p.Phe416Cys | |
| ENST00000698871.1:n.1770T>G | ||
| ENST00000698872.1:c.*36T>G | ENSP00000513997.1:n.*36T>G | |
| ENST00000698873.1:c.*442T>G | ENSP00000513998.1:n.*442T>G | |
| ENST00000698874.1:c.707T>G | ENSP00000513999.1:p.Phe236Cys | |
| ENST00000698875.1:n.1107T>G | ||
| ENST00000698876.1:n.1186T>G | ||
| ENST00000698877.1:n.815T>G | ||
| ENST00000698878.1:c.1247T>G | ENSP00000514000.1:p.Phe416Cys | |
| ENST00000698880.1:c.1087T>G | ||
| ENST00000345728.10:c.1247T>G MANE Select | ENSP00000339950.5:p.Phe416Cys | |
| ENST00000279227.9:c.1259T>G | ENSP00000279227.5:p.Phe420Cys | |
| ENST00000345728.9:c.1247T>G | ENSP00000339950.5:p.Phe416Cys | |
| ENST00000540957.1:n.400T>G | ||
| ENST00000541326.5:n.554T>G | ||
| NM_031471.5:c.1247T>G | NP_113659.3:p.Phe416Cys | |
| NM_178443.2:c.1259T>G , LRG_180t1:c.1259T>G | NP_848537.1:p.Phe420Cys | |
| XM_011545294.1:c.1259T>G | XP_011543596.1:p.Phe420Cys | |
| XM_011545295.1:c.719T>G | XP_011543597.1:p.Phe240Cys | |
| XM_011545296.1:c.719T>G | XP_011543598.1:p.Phe240Cys | |
| XM_011545294.3:c.1259T>G | XP_011543596.1:p.Phe420Cys | |
| XM_011545295.2:c.719T>G | XP_011543597.1:p.Phe240Cys | |
| XM_017018398.2:c.1247T>G | XP_016873887.1:p.Phe416Cys | |
| XM_017018399.1:c.707T>G | XP_016873888.1:p.Phe236Cys | |
| NM_031471.6:c.1247T>G MANE Select | NP_113659.3:p.Phe416Cys | |
| NM_001382361.1:c.1247T>G | NP_001369290.1:p.Phe416Cys | |
| NM_001382362.1:c.1259T>G | NP_001369291.1:p.Phe420Cys | |
| NM_001382363.1:c.707T>G | NP_001369292.1:p.Phe236Cys | |
| NM_001382364.1:c.719T>G | NP_001369293.1:p.Phe240Cys | |
| NM_001382448.1:c.1247T>G | NP_001369377.1:p.Phe416Cys | |
| NM_178443.3:c.1259T>G | NP_848537.1:p.Phe420Cys |