Linked Data
ClinVar Variation Id:
92374
dbSNP Id:
rs398123131
gnomAD v2:
9-133355792-G-A
gnomAD v4:
9-130480405-G-A
COSMIC:
COSM3904783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480405G>A , CM000671.2:g.130480405G>A | GRCh38 |
| NC_000009.11:g.133355792G>A , CM000671.1:g.133355792G>A | GRCh37 |
| NC_000009.10:g.132345613G>A | NCBI36 |
| NG_011542.1:g.40699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.794G>A MANE Select | ENSP00000253004.6:p.Arg265His | |
| ENST00000352480.9:c.794G>A | ENSP00000253004.6:p.Arg265His | |
| ENST00000372386.6:n.65G>A | ||
| ENST00000372393.7:c.794G>A | ENSP00000361469.2:p.Arg265His | |
| ENST00000372394.5:c.794G>A | ENSP00000361471.1:p.Arg265His | |
| ENST00000470849.4:n.519G>A | ||
| ENST00000492400.5:n.303G>A | ||
| ENST00000493984.6:n.571G>A | ||
| NM_000050.4:c.794G>A | NP_000041.2:p.Arg265His | |
| NM_054012.3:c.794G>A | NP_446464.1:p.Arg265His | |
| XM_005272200.2:c.794G>A | XP_005272257.1:p.Arg265His | |
| XM_011518705.1:c.908G>A | XP_011517007.1:p.Arg303His | |
| XM_005272200.3:c.794G>A | XP_005272257.1:p.Arg265His | |
| XM_011518705.2:c.908G>A | XP_011517007.1:p.Arg303His | |
| XM_017014729.1:c.890G>A | XP_016870218.1:p.Arg297His | |
| NM_054012.4:c.794G>A MANE Select | NP_446464.1:p.Arg265His |