Linked Data
ClinVar Variation Id:
1672001
ClinVar RCV Id:
RCV002208198
dbSNP Id:
rs1557055315
gnomAD v2:
X-153008684-C-T
gnomAD v4:
X-153743230-C-T
MyVariant Identifiers:
chrX:g.153008684C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743230C>T , CM000685.2:g.153743230C>T | GRCh38 |
| NC_000023.10:g.153008684C>T , CM000685.1:g.153008684C>T | GRCh37 |
| NC_000023.9:g.152661878C>T | NCBI36 |
| NG_009022.2:g.23363C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1875C>T MANE Select | ENSP00000218104.3:p.Tyr625= | |
| ENST00000218104.5:c.1875C>T | ENSP00000218104.3:p.Tyr625= | |
| NM_000033.3:c.1875C>T | NP_000024.2:p.Tyr625= | |
| XR_938507.1:n.2347C>T | ||
| XR_938507.2:n.2347C>T | ||
| NM_000033.4:c.1875C>T MANE Select | NP_000024.2:p.Tyr625= |