Linked Data
ClinVar Variation Id:
2340741
ClinVar RCV Id:
RCV002950677
dbSNP Id:
rs143092948
ExAC:
1:201286760 G / A
gnomAD v2:
1-201286760-G-A
gnomAD v3:
1-201317632-G-A
gnomAD v4:
1-201317632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317632G>A , CM000663.2:g.201317632G>A | GRCh38 |
| NC_000001.10:g.201286760G>A , CM000663.1:g.201286760G>A | GRCh37 |
| NC_000001.9:g.199553383G>A | NCBI36 |
| NG_023337.1:g.39181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.907G>A MANE Select | ENSP00000356293.4:p.Val303Ile | |
| ENST00000263946.7:c.907G>A | ENSP00000263946.3:p.Val303Ile | |
| ENST00000352845.3:c.907G>A | ENSP00000295597.3:p.Val303Ile | |
| ENST00000367324.7:c.907G>A | ENSP00000356293.3:p.Val303Ile | |
| ENST00000475988.1:n.249G>A | ||
| ENST00000622031.4:c.904G>A | ENSP00000482213.1:p.Val302Ile | |
| NM_000299.3:c.907G>A | NP_000290.2:p.Val303Ile | |
| NM_001005337.2:c.907G>A | NP_001005337.1:p.Val303Ile | |
| NM_001005337.3:c.907G>A MANE Select | NP_001005337.1:p.Val303Ile | |
| NM_000299.4:c.907G>A | NP_000290.2:p.Val303Ile |