Linked Data
ClinVar Variation Id:
874108
ClinVar RCV Id:
RCV001096780
dbSNP Id:
rs200097129
ExAC:
1:201286798 G / A
gnomAD v2:
1-201286798-G-A
gnomAD v3:
1-201317670-G-A
gnomAD v4:
1-201317670-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317670G>A , CM000663.2:g.201317670G>A | GRCh38 |
| NC_000001.10:g.201286798G>A , CM000663.1:g.201286798G>A | GRCh37 |
| NC_000001.9:g.199553421G>A | NCBI36 |
| NG_023337.1:g.39219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.945G>A MANE Select | ENSP00000356293.4:p.Val315= | |
| ENST00000263946.7:c.945G>A | ENSP00000263946.3:p.Val315= | |
| ENST00000352845.3:c.945G>A | ENSP00000295597.3:p.Val315= | |
| ENST00000367324.7:c.945G>A | ENSP00000356293.3:p.Val315= | |
| ENST00000475988.1:n.287G>A | ||
| ENST00000622031.4:c.942G>A | ENSP00000482213.1:p.Val314= | |
| NM_000299.3:c.945G>A | NP_000290.2:p.Val315= | |
| NM_001005337.2:c.945G>A | NP_001005337.1:p.Val315= | |
| NM_001005337.3:c.945G>A MANE Select | NP_001005337.1:p.Val315= | |
| NM_000299.4:c.945G>A | NP_000290.2:p.Val315= |