gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23025441 (MID)
Genomes Max Group AF
0.20772048 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.163179535T>C , CM000663.2:g.163179535T>C | GRCh38 |
| NC_000001.10:g.163149325T>C , CM000663.1:g.163149325T>C | GRCh37 |
| NC_000001.9:g.161415949T>C | NCBI36 |
| NG_027731.1:g.28639A>G | |
| NG_027731.2:g.147257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313961.10:c.45-11167A>G (RGS5) MANE Select | ENSP00000319308.5:n.45-11167A>G | |
| ENST00000313961.9:c.45-11167A>G (RGS5) | ENSP00000319308.5:n.45-11167A>G | |
| ENST00000367903.7:c.70-6943A>G (RGS5) | ENSP00000356879.3:n.70-6943A>G | |
| ENST00000428971.2:n.447-11167A>G (RGS5) | ||
| ENST00000525894.5:n.125-11167A>G (RGS5) | ||
| ENST00000527988.1:c.-108+23257A>G (RGS5) | ENSP00000432313.1:n.-108+23257A>G | |
| ENST00000530241.5:n.297-11167A>G (RGS5) | ||
| ENST00000530507.5:c.45-11167A>G (RGS5) | ENSP00000433001.1:n.45-11167A>G | |
| ENST00000531476.1:c.45-17559A>G (RGS5) | ENSP00000435861.1:n.45-17559A>G | |
| ENST00000531954.5:n.212-11167A>G (RGS5) | ||
| ENST00000534288.5:n.352-11167A>G (RGS5) | ||
| ENST00000618415.4:c.-280-11167A>G (RGS5) | ENSP00000480891.1:n.-280-11167A>G | |
| NM_001195303.2:c.-108+23257A>G (RGS5) | NP_001182232.1:n.-108+23257A>G | |
| NM_001254748.1:c.-280-11167A>G (RGS5) | NP_001241677.1:n.-280-11167A>G | |
| NM_001254749.1:c.45-11167A>G (RGS5) | NP_001241678.1:n.45-11167A>G | |
| NM_003617.3:c.45-11167A>G (RGS5) | NP_003608.1:n.45-11167A>G | |
| NR_110699.1:n.258+16659T>C (RGS5-AS1) | ||
| NM_003617.4:c.45-11167A>G (RGS5) MANE Select | NP_003608.1:n.45-11167A>G | |
| NM_001195303.3:c.-108+23257A>G (RGS5) | NP_001182232.1:n.-108+23257A>G | |
| NM_001254749.2:c.45-11167A>G (RGS5) | NP_001241678.1:n.45-11167A>G | |
| NM_001254748.2:c.-280-11167A>G (RGS5) | NP_001241677.1:n.-280-11167A>G |