Linked Data
ClinVar Variation Id:
135037
ClinVar RCV Id:
RCV000121810
dbSNP Id:
rs3908109
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179219700G>A , CM000665.2:g.179219700G>A | GRCh38 |
| NC_000003.11:g.178937488G>A , CM000665.1:g.178937488G>A | GRCh37 |
| NC_000003.10:g.180420182G>A | NCBI36 |
| NG_012113.2:g.76178G>A , LRG_310:g.76178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1876G>A MANE Select | ENSP00000263967.3:p.Asp626Asn | |
| ENST00000462255.2:n.338G>A | ||
| ENST00000643187.1:c.1876G>A | ENSP00000493507.1:p.Asp626Asn | |
| ENST00000674534.1:n.2784G>A | ||
| ENST00000674622.1:c.297G>A | ENSP00000502417.1:n.297G>A | |
| ENST00000675467.1:n.4683G>A | ||
| ENST00000675786.1:c.*443G>A | ENSP00000502323.1:n.*443G>A | |
| ENST00000263967.3:c.1876G>A | ENSP00000263967.3:p.Asp626Asn | |
| ENST00000462255.1:n.150G>A | ||
| NM_006218.2:c.1876G>A , LRG_310t1:c.1876G>A | NP_006209.2:p.Asp626Asn | |
| XM_006713658.2:c.1876G>A | XP_006713721.1:p.Asp626Asn | |
| XM_011512894.1:c.1876G>A | XP_011511196.1:p.Asp626Asn | |
| NM_006218.3:c.1876G>A | NP_006209.2:p.Asp626Asn | |
| XM_006713658.4:c.1876G>A | XP_006713721.1:p.Asp626Asn | |
| XM_011512894.2:c.1876G>A | XP_011511196.1:p.Asp626Asn | |
| NM_006218.4:c.1876G>A MANE Select | NP_006209.2:p.Asp626Asn |