Linked Data
ClinVar Variation Id:
773002
ClinVar RCV Id:
RCV000952677
dbSNP Id:
rs2256871
ExAC:
10:96708974 A / G
gnomAD v2:
10-96708974-A-G
gnomAD v3:
10-94949217-A-G
gnomAD v4:
10-94949217-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949217A>G , CM000672.2:g.94949217A>G | GRCh38 |
| NC_000010.10:g.96708974A>G , CM000672.1:g.96708974A>G | GRCh37 |
| NC_000010.9:g.96698964A>G | NCBI36 |
| NG_008385.1:g.15560A>G | |
| NG_008385.2:g.16060A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.752A>G MANE Select | ENSP00000260682.6:p.His251Arg | |
| ENST00000643112.1:c.752A>G | ENSP00000496202.1:p.His251Arg | |
| ENST00000260682.6:c.752A>G | ENSP00000260682.6:p.His251Arg | |
| ENST00000473496.1:n.523A>G | ||
| NM_000771.3:c.752A>G | NP_000762.2:p.His251Arg | |
| NM_000771.4:c.752A>G MANE Select | NP_000762.2:p.His251Arg |