Linked Data
ClinVar Variation Id:
198687
ClinVar RCV Id:
RCV000180095
dbSNP Id:
rs797044781
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153742986G>A , CM000685.2:g.153742986G>A | GRCh38 |
| NC_000023.10:g.153008440G>A , CM000685.1:g.153008440G>A | GRCh37 |
| NC_000023.9:g.152661634G>A | NCBI36 |
| NG_009022.2:g.23119G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.1781-1G>A MANE Select | ENSP00000218104.3:n.1781-1G>A | |
| ENST00000218104.5:c.1781-1G>A | ENSP00000218104.3:n.1781-1G>A | |
| NM_000033.3:c.1781-1G>A | NP_000024.2:n.1781-1G>A | |
| XR_938507.1:n.2253-1G>A | ||
| XR_938507.2:n.2253-1G>A | ||
| NM_000033.4:c.1781-1G>A MANE Select | NP_000024.2:n.1781-1G>A |