Linked Data
ClinVar Variation Id:
488522
ClinVar RCV Id:
RCV000578374
dbSNP Id:
rs1553851490
COSMIC:
COSM5545048
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179416531C>T , CM000665.2:g.179416531C>T | GRCh38 |
| NC_000003.11:g.179134319C>T , CM000665.1:g.179134319C>T | GRCh37 |
| NC_000003.10:g.180617013C>T | NCBI36 |
| NG_033163.1:g.40053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.229G>A MANE Select | ENSP00000232564.3:p.Gly77Arg | |
| ENST00000465153.2:c.229G>A | ENSP00000502010.1:p.Gly77Arg | |
| ENST00000466899.6:c.229G>A | ENSP00000420066.2:p.Gly77Arg | |
| ENST00000468623.6:c.190G>A | ENSP00000419693.2:p.Gly64Arg | |
| ENST00000674713.1:c.121G>A | ENSP00000502144.1:p.Gly41Arg | |
| ENST00000674862.1:c.229G>A | ENSP00000502628.1:p.Gly77Arg | |
| ENST00000674927.1:c.229G>A | ENSP00000501774.1:p.Gly77Arg | |
| ENST00000675901.1:c.229G>A | ENSP00000501992.1:p.Gly77Arg | |
| ENST00000676128.1:c.229G>A | ENSP00000501882.1:p.Gly77Arg | |
| ENST00000232564.7:c.229G>A | ENSP00000232564.3:p.Gly77Arg | |
| ENST00000468623.5:c.229G>A | ENSP00000419693.1:p.Gly77Arg | |
| ENST00000497513.1:c.229G>A | ENSP00000420606.1:p.Gly77Arg | |
| NM_021629.3:c.229G>A | NP_067642.1:p.Gly77Arg | |
| XM_005247692.1:c.229G>A | XP_005247749.1:p.Gly77Arg | |
| XM_006713721.1:c.229G>A | XP_006713784.1:p.Gly77Arg | |
| XM_011513061.1:c.229G>A | XP_011511363.1:p.Gly77Arg | |
| XM_005247692.2:c.229G>A | XP_005247749.1:p.Gly77Arg | |
| XM_006713721.2:c.229G>A | XP_006713784.1:p.Gly77Arg | |
| NM_021629.4:c.229G>A MANE Select | NP_067642.1:p.Gly77Arg |