Linked Data
ClinVar Variation Id:
444873
ClinVar RCV Id:
RCV000513038
dbSNP Id:
rs1557211410
gnomAD v4:
X-154478727-C-T
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154478727C>T , CM000685.2:g.154478727C>T | GRCh38 |
| NC_000023.10:g.153707066C>T , CM000685.1:g.153707066C>T | GRCh37 |
| NC_000023.9:g.153360260C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357360.5:c.188+1G>A MANE Select | ENSP00000349923.4:n.188+1G>A | |
| ENST00000357360.4:c.188+1G>A | ENSP00000349923.4:n.188+1G>A | |
| ENST00000621786.1:c.174+1G>A | ENSP00000478022.1:n.174+1G>A | |
| NM_006014.4:c.188+1G>A | NP_006005.2:n.188+1G>A | |
| NM_006014.5:c.188+1G>A MANE Select | NP_006005.2:n.188+1G>A |