Linked Data
ClinVar Variation Id:
41941
ClinVar RCV Id:
RCV000034851
dbSNP Id:
rs387907341
PubMed:
PMID:23434117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179416495T>C , CM000665.2:g.179416495T>C | GRCh38 |
| NC_000003.11:g.179134283T>C , CM000665.1:g.179134283T>C | GRCh37 |
| NC_000003.10:g.180616977T>C | NCBI36 |
| NG_033163.1:g.40089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.265A>G MANE Select | ENSP00000232564.3:p.Lys89Glu | |
| ENST00000465153.2:c.265A>G | ENSP00000502010.1:p.Lys89Glu | |
| ENST00000466899.6:c.265A>G | ENSP00000420066.2:p.Lys89Glu | |
| ENST00000468623.6:c.226A>G | ENSP00000419693.2:p.Lys76Glu | |
| ENST00000674713.1:c.157A>G | ENSP00000502144.1:p.Lys53Glu | |
| ENST00000674862.1:c.265A>G | ENSP00000502628.1:p.Lys89Glu | |
| ENST00000674927.1:c.265A>G | ENSP00000501774.1:p.Lys89Glu | |
| ENST00000675901.1:c.265A>G | ENSP00000501992.1:p.Lys89Glu | |
| ENST00000676128.1:c.265A>G | ENSP00000501882.1:p.Lys89Glu | |
| ENST00000232564.7:c.265A>G | ENSP00000232564.3:p.Lys89Glu | |
| ENST00000466899.5:c.32A>G | ||
| ENST00000468623.5:c.265A>G | ENSP00000419693.1:p.Lys89Glu | |
| NM_021629.3:c.265A>G | NP_067642.1:p.Lys89Glu | |
| XM_005247692.1:c.265A>G | XP_005247749.1:p.Lys89Glu | |
| XM_006713721.1:c.265A>G | XP_006713784.1:p.Lys89Glu | |
| XM_011513061.1:c.265A>G | XP_011511363.1:p.Lys89Glu | |
| XM_005247692.2:c.265A>G | XP_005247749.1:p.Lys89Glu | |
| XM_006713721.2:c.265A>G | XP_006713784.1:p.Lys89Glu | |
| NM_021629.4:c.265A>G MANE Select | NP_067642.1:p.Lys89Glu |