Linked Data
ClinVar Variation Id:
456531
ClinVar RCV Id:
RCV002395289
dbSNP Id:
rs121913275
gnomAD v2:
3-178936093-G-A
gnomAD v4:
3-179218305-G-A
COSMIC:
COSM1716554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218305G>A , CM000665.2:g.179218305G>A | GRCh38 |
| NC_000003.11:g.178936093G>A , CM000665.1:g.178936093G>A | GRCh37 |
| NC_000003.10:g.180418787G>A | NCBI36 |
| NG_012113.2:g.74783G>A , LRG_310:g.74783G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.1635G>A MANE Select | ENSP00000263967.3:p.Glu545= | |
| ENST00000462255.2:n.97G>A | ||
| ENST00000643187.1:c.1635G>A | ENSP00000493507.1:p.Glu545= | |
| ENST00000674534.1:n.1389G>A | ||
| ENST00000674622.1:c.138G>A | ENSP00000502417.1:p.Glu46= | |
| ENST00000675467.1:n.4442G>A | ||
| ENST00000675786.1:c.*202G>A | ENSP00000502323.1:n.*202G>A | |
| ENST00000263967.3:c.1635G>A | ENSP00000263967.3:p.Glu545= | |
| NM_006218.2:c.1635G>A , LRG_310t1:c.1635G>A | NP_006209.2:p.Glu545= | |
| XM_006713658.2:c.1635G>A | XP_006713721.1:p.Glu545= | |
| XM_011512894.1:c.1635G>A | XP_011511196.1:p.Glu545= | |
| NM_006218.3:c.1635G>A | NP_006209.2:p.Glu545= | |
| XM_006713658.4:c.1635G>A | XP_006713721.1:p.Glu545= | |
| XM_011512894.2:c.1635G>A | XP_011511196.1:p.Glu545= | |
| NM_006218.4:c.1635G>A MANE Select | NP_006209.2:p.Glu545= |