Linked Data
ClinVar Variation Id:
368049
ClinVar RCV Id:
RCV000312537
dbSNP Id:
rs141446687
ExAC:
X:153002645 C / T
gnomAD v2:
X-153002645-C-T
gnomAD v3:
X-153737191-C-T
gnomAD v4:
X-153737191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737191C>T , CM000685.2:g.153737191C>T | GRCh38 |
| NC_000023.10:g.153002645C>T , CM000685.1:g.153002645C>T | GRCh37 |
| NC_000023.9:g.152655839C>T | NCBI36 |
| NG_009022.2:g.17324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1428C>T MANE Select | ENSP00000218104.3:p.Cys476= | |
| ENST00000218104.5:c.1428C>T | ENSP00000218104.3:p.Cys476= | |
| ENST00000443684.2:n.431C>T | ||
| NM_000033.3:c.1428C>T | NP_000024.2:p.Cys476= | |
| XR_938507.1:n.1900C>T | ||
| XR_938507.2:n.1900C>T | ||
| NM_000033.4:c.1428C>T MANE Select | NP_000024.2:p.Cys476= |