Linked Data
ClinVar Variation Id:
523529
ClinVar RCV Id:
RCV000626953
dbSNP Id:
rs201439531
gnomAD v3:
10-49664880-C-G
gnomAD v4:
10-49664880-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49664880C>G , CM000672.2:g.49664880C>G | GRCh38 |
| NC_000010.10:g.50872926C>G , CM000672.1:g.50872926C>G | GRCh37 |
| NC_000010.9:g.50542932C>G | NCBI36 |
| NG_011797.1:g.60786C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337653.7:c.2081C>G MANE Select | ENSP00000337103.2:p.Ser694Cys | |
| ENST00000638282.1:c.*918C>G | ENSP00000492646.1:n.*918C>G | |
| ENST00000638683.1:n.878C>G | ||
| ENST00000640822.1:c.944C>G | ENSP00000491328.1:p.Ser315Cys | |
| ENST00000337653.6:c.2081C>G | ENSP00000337103.2:p.Ser694Cys | |
| ENST00000339797.5:c.1727C>G | ENSP00000343486.1:p.Ser576Cys | |
| ENST00000351556.7:c.1727C>G | ENSP00000345878.3:p.Ser576Cys | |
| ENST00000395559.6:c.1727C>G | ENSP00000378926.2:p.Ser576Cys | |
| ENST00000395562.2:c.1835C>G | ENSP00000378929.2:p.Ser612Cys | |
| ENST00000466590.6:c.*1812C>G | ENSP00000473443.1:n.*1812C>G | |
| NM_001142929.1:c.1727C>G | NP_001136401.1:p.Ser576Cys | |
| NM_001142933.1:c.1835C>G | NP_001136405.1:p.Ser612Cys | |
| NM_001142934.1:c.1727C>G | NP_001136406.1:p.Ser576Cys | |
| NM_020549.4:c.2081C>G | NP_065574.3:p.Ser694Cys | |
| NM_020984.3:c.1727C>G | NP_066264.3:p.Ser576Cys | |
| NM_020985.3:c.1727C>G | NP_066265.3:p.Ser576Cys | |
| NM_020986.3:c.1727C>G | NP_066266.3:p.Ser576Cys | |
| NM_001142929.2:c.1727C>G | NP_001136401.2:p.Ser576Cys | |
| NM_001142933.2:c.1835C>G | NP_001136405.2:p.Ser612Cys | |
| NM_001142934.2:c.1727C>G | NP_001136406.2:p.Ser576Cys | |
| NM_020549.5:c.2081C>G MANE Select | NP_065574.4:p.Ser694Cys | |
| NM_020984.4:c.1727C>G | NP_066264.4:p.Ser576Cys | |
| NM_020985.4:c.1727C>G | NP_066265.4:p.Ser576Cys | |
| NM_020986.4:c.1727C>G | NP_066266.4:p.Ser576Cys |