Linked Data
ClinVar Variation Id:
253093
ClinVar RCV Id:
RCV000239464
dbSNP Id:
rs879255553
PubMed:
PMID:26991760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236409275G>A , CM000663.2:g.236409275G>A | GRCh38 |
| NC_000001.10:g.236572575G>A , CM000663.1:g.236572575G>A | GRCh37 |
| NC_000001.9:g.234639198G>A | NCBI36 |
| NG_011566.1:g.19896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.120+1G>A MANE Select | ENSP00000335076.4:n.120+1G>A | |
| ENST00000359362.6:c.90+1G>A | ENSP00000352320.4:n.90+1G>A | |
| ENST00000637660.1:c.54+1G>A | ENSP00000490347.1:n.54+1G>A | |
| ENST00000642595.1:c.90+1G>A | ENSP00000494458.1:n.90+1G>A | |
| ENST00000334232.8:c.120+1G>A | ENSP00000335076.4:n.120+1G>A | |
| ENST00000359362.5:c.90+1G>A | ENSP00000352320.4:n.90+1G>A | |
| ENST00000439430.5:c.54+1G>A | ENSP00000405815.1:n.54+1G>A | |
| NM_080738.3:c.90+1G>A | NP_542776.1:n.90+1G>A | |
| NM_145861.2:c.120+1G>A | NP_665860.2:n.120+1G>A | |
| NM_080738.4:c.90+1G>A | NP_542776.1:n.90+1G>A | |
| NM_145861.4:c.120+1G>A MANE Select | NP_665860.2:n.120+1G>A |