Linked Data
ClinVar Variation Id:
294809
dbSNP Id:
rs78314242
ExAC:
1:201282592 G / A
gnomAD v2:
1-201282592-G-A
gnomAD v3:
1-201313464-G-A
gnomAD v4:
1-201313464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201313464G>A , CM000663.2:g.201313464G>A | GRCh38 |
| NC_000001.10:g.201282592G>A , CM000663.1:g.201282592G>A | GRCh37 |
| NC_000001.9:g.199549215G>A | NCBI36 |
| NG_023337.1:g.35013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.605G>A MANE Select | ENSP00000356293.4:p.Arg202His | |
| ENST00000263946.7:c.605G>A | ENSP00000263946.3:p.Arg202His | |
| ENST00000352845.3:c.605G>A | ENSP00000295597.3:p.Arg202His | |
| ENST00000367324.7:c.605G>A | ENSP00000356293.3:p.Arg202His | |
| ENST00000622031.4:c.605G>A | ENSP00000482213.1:p.Arg202His | |
| NM_000299.3:c.605G>A | NP_000290.2:p.Arg202His | |
| NM_001005337.2:c.605G>A | NP_001005337.1:p.Arg202His | |
| NM_001005337.3:c.605G>A MANE Select | NP_001005337.1:p.Arg202His | |
| NM_000299.4:c.605G>A | NP_000290.2:p.Arg202His |