Linked Data
ClinVar Variation Id:
11304
ClinVar RCV Id:
RCV000012056
dbSNP Id:
rs128624222
gnomAD v4:
X-153737192-G-T
PubMed:
PMID:7849723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737192G>T , CM000685.2:g.153737192G>T | GRCh38 |
| NC_000023.10:g.153002646G>T , CM000685.1:g.153002646G>T | GRCh37 |
| NC_000023.9:g.152655840G>T | NCBI36 |
| NG_009022.2:g.17325G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1429G>T MANE Select | ENSP00000218104.3:p.Glu477Ter | |
| ENST00000218104.5:c.1429G>T | ENSP00000218104.3:p.Glu477Ter | |
| ENST00000443684.2:n.432G>T | ||
| NM_000033.3:c.1429G>T | NP_000024.2:p.Glu477Ter | |
| XR_938507.1:n.1901G>T | ||
| XR_938507.2:n.1901G>T | ||
| NM_000033.4:c.1429G>T MANE Select | NP_000024.2:p.Glu477Ter |