Linked Data
ClinVar Variation Id:
946618
ClinVar RCV Id:
RCV001217517
dbSNP Id:
rs782540790
ExAC:
X:49851396 C / T
gnomAD v2:
X-49851396-C-T
gnomAD v3:
X-50086739-C-T
gnomAD v4:
X-50086739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50086739C>T , CM000685.2:g.50086739C>T | GRCh38 |
| NC_000023.10:g.49851396C>T , CM000685.1:g.49851396C>T | GRCh37 |
| NC_000023.9:g.49738136C>T | NCBI36 |
| NG_007159.3:g.169124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376091.8:c.1426C>T MANE Select | ENSP00000365259.3:p.Arg476Cys | |
| ENST00000642383.1:c.676C>T | ENSP00000496353.1:p.Arg226Cys | |
| ENST00000642885.1:c.1216C>T | ENSP00000496632.1:p.Arg406Cys | |
| ENST00000643129.1:c.1713C>T | ||
| ENST00000646398.1:c.*601C>T | ENSP00000495122.1:n.*601C>T | |
| ENST00000307367.2:c.1216C>T | ENSP00000304257.2:p.Arg406Cys | |
| ENST00000376088.7:c.1426C>T | ENSP00000365256.3:p.Arg476Cys | |
| ENST00000376091.7:c.1426C>T | ENSP00000365259.3:p.Arg476Cys | |
| ENST00000376108.7:c.1216C>T | ENSP00000365276.3:p.Arg406Cys | |
| NM_000084.4:c.1216C>T | NP_000075.1:p.Arg406Cys | |
| NM_001127898.3:c.1426C>T | NP_001121370.1:p.Arg476Cys | |
| NM_001127899.3:c.1426C>T | NP_001121371.1:p.Arg476Cys | |
| NM_001282163.1:c.1276C>T | NP_001269092.1:p.Arg426Cys | |
| XM_011543888.1:c.1426C>T | XP_011542190.1:p.Arg476Cys | |
| XM_011543889.1:c.1216C>T | XP_011542191.1:p.Arg406Cys | |
| XM_017029257.1:c.1438C>T | XP_016884746.1:p.Arg480Cys | |
| XM_017029258.1:c.1438C>T | XP_016884747.1:p.Arg480Cys | |
| NM_001127898.4:c.1426C>T MANE Select | NP_001121370.1:p.Arg476Cys | |
| NM_000084.5:c.1216C>T | NP_000075.1:p.Arg406Cys | |
| NM_001127899.4:c.1426C>T | NP_001121371.1:p.Arg476Cys | |
| NM_001282163.2:c.1276C>T | NP_001269092.1:p.Arg426Cys |