Linked Data
ClinVar Variation Id:
855522
dbSNP Id:
rs199638172
ExAC:
5:137781023 G / A
gnomAD v2:
5-137781023-G-A
gnomAD v3:
5-138445334-G-A
gnomAD v4:
5-138445334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138445334G>A , CM000667.2:g.138445334G>A | GRCh38 |
| NC_000005.9:g.137781023G>A , CM000667.1:g.137781023G>A | GRCh37 |
| NC_000005.8:g.137808922G>A | NCBI36 |
| NG_033967.1:g.11334G>A | |
| NG_033967.2:g.11334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378339.7:c.524G>A MANE Select | ENSP00000367590.2:p.Arg175Gln | |
| ENST00000254901.9:c.518G>A | ENSP00000254901.5:p.Arg173Gln | |
| ENST00000378339.6:c.524G>A | ENSP00000367590.2:p.Arg175Gln | |
| ENST00000504163.1:n.337G>A | ||
| ENST00000506158.5:c.404G>A | ENSP00000422530.1:p.Arg135Gln | |
| ENST00000507511.5:c.*324G>A | ENSP00000424441.1:n.*324G>A | |
| ENST00000507635.5:n.429G>A | ||
| ENST00000613650.1:c.408G>A | ENSP00000479268.1:p.Pro136= | |
| NM_001271803.1:c.524G>A | NP_001258732.1:p.Arg175Gln | |
| NM_016606.3:c.518G>A | NP_057690.2:p.Arg173Gln | |
| NR_073448.1:n.801G>A | ||
| NR_073449.1:n.807G>A | ||
| NM_001271803.2:c.524G>A MANE Select | NP_001258732.1:p.Arg175Gln | |
| NM_016606.4:c.518G>A | NP_057690.2:p.Arg173Gln | |
| NR_073448.2:n.745G>A | ||
| NR_073449.2:n.751G>A |