Linked Data
ClinVar Variation Id:
9938
ClinVar RCV Id:
RCV000010616
dbSNP Id:
rs180177151
PubMed:
PMID:20021999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107639365G>A , CM000685.2:g.107639365G>A | GRCh38 |
| NC_000023.10:g.106882595G>A , CM000685.1:g.106882595G>A | GRCh37 |
| NC_000023.9:g.106769251G>A | NCBI36 |
| NG_008407.1:g.15942G>A , LRG_264:g.15942G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372418.4:c.193G>A | ENSP00000361495.2:p.Asp65Asn | |
| ENST00000372435.10:c.193G>A MANE Select | ENSP00000361512.4:p.Asp65Asn | |
| ENST00000643795.2:c.193G>A | ENSP00000496286.1:p.Asp65Asn | |
| ENST00000644642.1:c.123-5812G>A | ENSP00000495493.1:n.123-5812G>A | |
| ENST00000645638.1:c.*162G>A | ENSP00000496554.1:n.*162G>A | |
| ENST00000645903.1:n.287G>A | ||
| ENST00000674525.1:n.278G>A | ||
| ENST00000674826.1:c.123-1537G>A | ENSP00000502278.1:n.123-1537G>A | |
| ENST00000674843.1:c.295G>A | ENSP00000502260.1:n.295G>A | |
| ENST00000675046.1:c.71G>A | ||
| ENST00000675304.1:n.126G>A | ||
| ENST00000675720.1:c.71G>A | ||
| ENST00000676092.1:c.193G>A | ENSP00000502780.1:p.Asp65Asn | |
| ENST00000372418.2:c.-9G>A | ENSP00000361495.1:n.-9G>A | |
| ENST00000372419.3:c.193G>A | ENSP00000361496.3:p.Asp65Asn | |
| ENST00000372428.8:c.-82-5812G>A | ENSP00000361505.5:n.-82-5812G>A | |
| ENST00000372435.8:c.193G>A | ENSP00000361512.4:p.Asp65Asn | |
| NM_001204402.1:c.-82-5812G>A | NP_001191331.1:n.-82-5812G>A | |
| NM_002764.3:c.193G>A , LRG_264t1:c.193G>A | NP_002755.1:p.Asp65Asn | |
| NM_002764.4:c.193G>A MANE Select | NP_002755.1:p.Asp65Asn | |
| NM_001204402.2:c.-82-5812G>A | NP_001191331.1:n.-82-5812G>A |