Linked Data
ClinVar Variation Id:
2623205
ClinVar RCV Id:
RCV003374943
dbSNP Id:
rs769754162
ExAC:
1:201286788 G / A
gnomAD v2:
1-201286788-G-A
gnomAD v3:
1-201317660-G-A
gnomAD v4:
1-201317660-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317660G>A , CM000663.2:g.201317660G>A | GRCh38 |
| NC_000001.10:g.201286788G>A , CM000663.1:g.201286788G>A | GRCh37 |
| NC_000001.9:g.199553411G>A | NCBI36 |
| NG_023337.1:g.39209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.935G>A MANE Select | ENSP00000356293.4:p.Arg312His | |
| ENST00000263946.7:c.935G>A | ENSP00000263946.3:p.Arg312His | |
| ENST00000352845.3:c.935G>A | ENSP00000295597.3:p.Arg312His | |
| ENST00000367324.7:c.935G>A | ENSP00000356293.3:p.Arg312His | |
| ENST00000475988.1:n.277G>A | ||
| ENST00000622031.4:c.932G>A | ENSP00000482213.1:p.Arg311His | |
| NM_000299.3:c.935G>A | NP_000290.2:p.Arg312His | |
| NM_001005337.2:c.935G>A | NP_001005337.1:p.Arg312His | |
| NM_001005337.3:c.935G>A MANE Select | NP_001005337.1:p.Arg312His | |
| NM_000299.4:c.935G>A | NP_000290.2:p.Arg312His |