Linked Data
dbSNP Id:
rs1185695713
gnomAD v2:
6-32006249-G-A
gnomAD v3:
6-32038472-G-A
gnomAD v4:
6-32038472-G-A
COSMIC:
COSM3410965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038472G>A , CM000668.2:g.32038472G>A | GRCh38 |
| NC_000006.11:g.32006249G>A , CM000668.1:g.32006249G>A | GRCh37 |
| NC_000006.10:g.32114228G>A | NCBI36 |
| NG_007941.2:g.5165G>A | |
| NG_007941.3:g.5168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.50G>A MANE Select | ENSP00000496625.1:p.Arg17His | |
| ENST00000418967.6:c.50G>A | ENSP00000408860.2:p.Arg17His | |
| ENST00000435122.3:c.50G>A | ENSP00000415043.2:p.Arg17His | |
| ENST00000466779.5:c.50G>A | ENSP00000417321.1:p.Arg17His | |
| ENST00000469053.5:c.50G>A | ENSP00000418104.1:p.Arg17His | |
| ENST00000471671.4:c.50G>A | ENSP00000418561.1:p.Arg17His | |
| ENST00000478281.5:c.50G>A | ENSP00000419572.1:p.Arg17His | |
| ENST00000479074.5:n.108G>A | ||
| ENST00000479730.5:n.108G>A | ||
| ENST00000480027.1:n.103G>A | ||
| ENST00000483041.5:n.103G>A | ||
| ENST00000486063.5:n.133G>A | ||
| ENST00000488465.1:n.58G>A | ||
| NM_000500.7:c.50G>A | NP_000491.4:p.Arg17His | |
| NM_001128590.3:c.50G>A | NP_001122062.3:p.Arg17His | |
| XM_011514314.1:c.-375G>A | XP_011512616.1:n.-375G>A | |
| NM_000500.9:c.50G>A MANE Select | NP_000491.4:p.Arg17His | |
| NM_001368143.1:c.-375G>A | NP_001355072.1:n.-375G>A | |
| NM_001368144.1:c.-285G>A | NP_001355073.1:n.-285G>A | |
| NM_001128590.4:c.50G>A | NP_001122062.3:p.Arg17His | |
| NM_001368143.2:c.-375G>A | NP_001355072.1:n.-375G>A | |
| NM_001368144.2:c.-285G>A | NP_001355073.1:n.-285G>A |