Linked Data
ClinVar Variation Id:
1932736
ClinVar RCV Id:
RCV002635492
dbSNP Id:
rs758799163
ExAC:
3:190120221 G / A
gnomAD v2:
3-190120221-G-A
gnomAD v4:
3-190402432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190402432G>A , CM000665.2:g.190402432G>A | GRCh38 |
| NC_000003.11:g.190120221G>A , CM000665.1:g.190120221G>A | GRCh37 |
| NC_000003.10:g.191602915G>A | NCBI36 |
| NG_008149.1:g.19381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.210G>A MANE Select | ENSP00000264734.3:p.Glu70= | |
| ENST00000456423.2:c.115-7471G>A | ENSP00000414136.2:n.115-7471G>A | |
| ENST00000264734.2:c.420G>A | ENSP00000264734.2:p.Glu140= | |
| ENST00000456423.1:c.325-7471G>A | ENSP00000414136.1:n.325-7471G>A | |
| ENST00000468220.1:n.402G>A | ||
| NM_006580.3:c.420G>A | NP_006571.1:p.Glu140= | |
| NM_001378492.1:c.210G>A | NP_001365421.1:p.Glu70= | |
| NM_001378493.1:c.210G>A | NP_001365422.1:p.Glu70= | |
| NM_006580.4:c.210G>A MANE Select | NP_006571.2:p.Glu70= |