Linked Data
ClinVar Variation Id:
41940
ClinVar RCV Id:
RCV000034850
dbSNP Id:
rs387907340
gnomAD v4:
3-179419444-C-T
PubMed:
PMID:23434117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179419444C>T , CM000665.2:g.179419444C>T | GRCh38 |
| NC_000003.11:g.179137232C>T , CM000665.1:g.179137232C>T | GRCh37 |
| NC_000003.10:g.180619926C>T | NCBI36 |
| NG_033163.1:g.37140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.158G>A MANE Select | ENSP00000232564.3:p.Gly53Asp | |
| ENST00000465153.2:c.158G>A | ENSP00000502010.1:p.Gly53Asp | |
| ENST00000466899.6:c.158G>A | ENSP00000420066.2:p.Gly53Asp | |
| ENST00000468623.6:c.119G>A | ENSP00000419693.2:p.Gly40Asp | |
| ENST00000674713.1:c.50G>A | ENSP00000502144.1:p.Gly17Asp | |
| ENST00000674862.1:c.158G>A | ENSP00000502628.1:p.Gly53Asp | |
| ENST00000674927.1:c.158G>A | ENSP00000501774.1:p.Gly53Asp | |
| ENST00000675901.1:c.158G>A | ENSP00000501992.1:p.Gly53Asp | |
| ENST00000676128.1:c.158G>A | ENSP00000501882.1:p.Gly53Asp | |
| ENST00000232564.7:c.158G>A | ENSP00000232564.3:p.Gly53Asp | |
| ENST00000468623.5:c.158G>A | ENSP00000419693.1:p.Gly53Asp | |
| ENST00000497513.1:c.158G>A | ENSP00000420606.1:p.Gly53Asp | |
| NM_021629.3:c.158G>A | NP_067642.1:p.Gly53Asp | |
| XM_005247692.1:c.158G>A | XP_005247749.1:p.Gly53Asp | |
| XM_006713721.1:c.158G>A | XP_006713784.1:p.Gly53Asp | |
| XM_011513061.1:c.158G>A | XP_011511363.1:p.Gly53Asp | |
| XM_005247692.2:c.158G>A | XP_005247749.1:p.Gly53Asp | |
| XM_006713721.2:c.158G>A | XP_006713784.1:p.Gly53Asp | |
| NM_021629.4:c.158G>A MANE Select | NP_067642.1:p.Gly53Asp |