Linked Data
ClinVar Variation Id:
41927
ClinVar RCV Id:
RCV000034840
dbSNP Id:
rs387907336
PubMed:
PMID:16505043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111908874C>T , CM000673.2:g.111908874C>T | GRCh38 |
| NC_000011.9:g.111779598C>T , CM000673.1:g.111779598C>T | GRCh37 |
| NC_000011.8:g.111284808C>T | NCBI36 |
| NG_009824.2:g.19849G>A | |
| NG_033080.1:g.1139C>T | |
| NG_009824.3:g.19849G>A | |
| NG_033080.2:g.1139C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526167.5:c.217G>A | ENSP00000434793.1:p.Asp73Asn | |
| ENST00000526180.6:c.418G>A | ENSP00000436051.1:p.Asp140Asn | |
| ENST00000527899.6:c.418G>A | ENSP00000436089.2:p.Asp140Asn | |
| ENST00000528961.6:c.217G>A | ENSP00000435960.1:p.Asp73Asn | |
| ENST00000533280.6:c.217G>A | ENSP00000435046.1:p.Asp73Asn | |
| ENST00000533475.6:c.418G>A | ENSP00000433560.1:p.Asp140Asn | |
| ENST00000533879.2:c.418G>A | ENSP00000435931.2:p.Asp140Asn | |
| ENST00000533971.2:c.*1309G>A | ENSP00000434269.1:n.*1309G>A | |
| ENST00000616970.5:c.418G>A | ENSP00000483554.1:p.Asp140Asn | |
| ENST00000650687.2:c.418G>A MANE Select | ENSP00000499082.1:p.Asp140Asn | |
| ENST00000651164.1:c.418G>A | ENSP00000498735.1:p.Asp140Asn | |
| ENST00000651650.1:c.217G>A | ENSP00000498749.1:p.Asp73Asn | |
| ENST00000652223.1:n.3163G>A | ||
| ENST00000652606.1:n.1736G>A | ||
| ENST00000227251.7:c.418G>A | ENSP00000227251.3:p.Asp140Asn | |
| ENST00000524660.1:c.209G>A | ||
| ENST00000525823.1:c.217G>A | ENSP00000435411.1:p.Asp73Asn | |
| ENST00000526167.4:c.217G>A | ENSP00000434793.1:p.Asp73Asn | |
| ENST00000526180.5:c.418G>A | ENSP00000436051.1:p.Asp140Asn | |
| ENST00000527899.5:c.418G>A | ENSP00000436089.1:p.Asp140Asn | |
| ENST00000527950.5:c.418G>A | ENSP00000437149.1:p.Asp140Asn | |
| ENST00000528961.5:c.217G>A | ENSP00000435960.1:p.Asp73Asn | |
| ENST00000531198.5:c.418G>A | ENSP00000434247.1:p.Asp140Asn | |
| ENST00000533280.5:c.217G>A | ENSP00000435046.1:p.Asp73Asn | |
| ENST00000533475.5:c.418G>A | ENSP00000433560.1:p.Asp140Asn | |
| ENST00000616970.4:c.418G>A | ENSP00000483554.1:p.Asp140Asn | |
| NM_001289807.1:c.418G>A | NP_001276736.1:p.Asp140Asn | |
| NM_001289808.1:c.418G>A | NP_001276737.1:p.Asp140Asn | |
| NM_001885.2:c.418G>A | NP_001876.1:p.Asp140Asn | |
| XM_011542608.1:c.418G>A | XP_011540910.1:p.Asp140Asn | |
| XM_011542609.1:c.217G>A | XP_011540911.1:p.Asp73Asn | |
| NM_001330379.1:c.217G>A | NP_001317308.1:p.Asp73Asn | |
| NM_001289808.2:c.418G>A MANE Select | NP_001276737.1:p.Asp140Asn | |
| NM_001368245.1:c.418G>A | NP_001355174.1:p.Asp140Asn | |
| NM_001368246.1:c.217G>A | NP_001355175.1:p.Asp73Asn | |
| NM_001885.3:c.418G>A | NP_001876.1:p.Asp140Asn |