Linked Data
ClinVar Variation Id:
3162
ClinVar RCV Id:
RCV000003312
dbSNP Id:
rs120074175
ExAC:
12:72425324 G / A
gnomAD v2:
12-72425324-G-A
gnomAD v3:
12-72031544-G-A
gnomAD v4:
12-72031544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72031544G>A , CM000674.2:g.72031544G>A | GRCh38 |
| NC_000012.11:g.72425324G>A , CM000674.1:g.72425324G>A | GRCh37 |
| NC_000012.10:g.70711591G>A | NCBI36 |
| NG_008279.1:g.97699G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.1322G>A MANE Select | ENSP00000329093.3:p.Arg441His | |
| ENST00000333850.3:c.1322G>A | ENSP00000329093.3:p.Arg441His | |
| ENST00000547278.1:n.78+153G>A | ||
| ENST00000547348.5:n.100+153G>A | ||
| ENST00000550403.5:n.120+153G>A | ||
| ENST00000551074.5:n.93+153G>A | ||
| NM_173353.3:c.1322G>A | NP_775489.2:p.Arg441His | |
| XM_011537899.1:c.728G>A | XP_011536201.1:p.Arg243His | |
| NM_173353.4:c.1322G>A MANE Select | NP_775489.2:p.Arg441His |