Linked Data
ClinVar Variation Id:
2935910
ClinVar RCV Id:
RCV003794004
dbSNP Id:
rs781301298
ExAC:
X:66937325 C / T
gnomAD v2:
X-66937325-C-T
gnomAD v3:
X-67717483-C-T
gnomAD v4:
X-67717483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717483C>T , CM000685.2:g.67717483C>T | GRCh38 |
| NC_000023.10:g.66937325C>T , CM000685.1:g.66937325C>T | GRCh37 |
| NC_000023.9:g.66854050C>T | NCBI36 |
| NG_009014.2:g.178452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*527C>T | ENSP00000379358.4:n.*527C>T | |
| ENST00000374690.9:c.2179C>T MANE Select | ENSP00000363822.3:p.Arg727Cys | |
| ENST00000396043.3:c.806C>T | ENSP00000379358.3:n.806C>T | |
| ENST00000396044.8:c.2173+5794C>T | ENSP00000379359.3:n.2173+5794C>T | |
| ENST00000612452.5:c.2179C>T | ENSP00000484033.2:p.Arg727Cys | |
| ENST00000374690.7:c.2179C>T | ENSP00000363822.3:p.Arg727Cys | |
| ENST00000396043.2:c.583C>T | ENSP00000379358.2:p.Arg195Cys | |
| ENST00000396044.7:c.2173+5794C>T | ENSP00000379359.3:n.2173+5794C>T | |
| ENST00000612452.4:c.1609C>T | ENSP00000484033.1:p.Arg537Cys | |
| NM_000044.3:c.2179C>T | NP_000035.2:p.Arg727Cys | |
| NM_001011645.2:c.583C>T | NP_001011645.1:p.Arg195Cys | |
| NM_000044.4:c.2179C>T | NP_000035.2:p.Arg727Cys | |
| NM_001011645.3:c.583C>T | NP_001011645.1:p.Arg195Cys | |
| NM_000044.6:c.2179C>T MANE Select | NP_000035.2:p.Arg727Cys |