gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73940238 (NFE)
Genomes Max Group AF
0.73925342 (NFE)
Exomes Max Group AF
0.71285524 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33866065A>G , CM000677.2:g.33866065A>G | GRCh38 |
| NC_000015.9:g.34158266A>G , CM000677.1:g.34158266A>G | GRCh37 |
| NC_000015.8:g.31945558A>G | NCBI36 |
| NG_047076.1:g.560283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634891.2:c.*839A>G (RYR3) MANE Select | ENSP00000489262.1:n.*839A>G | |
| ENST00000636568.1:c.2245A>G (RYR3) | ||
| ENST00000636845.1:c.2961A>G (RYR3) | ||
| ENST00000637948.1:c.3001A>G (RYR3) | ||
| ENST00000675287.1:n.2510+497T>C (AVEN) | ||
| ENST00000389232.9:c.*839A>G (RYR3) | ENSP00000373884.5:n.*839A>G | |
| ENST00000415757.7:c.*839A>G (RYR3) | ENSP00000399610.3:n.*839A>G | |
| ENST00000622037.1:c.*839A>G (RYR3) | ENSP00000483166.1:n.*839A>G | |
| ENST00000634730.1:c.2687A>G (RYR3) | ENSP00000489346.1:n.2687A>G | |
| ENST00000634891.1:c.*839A>G (RYR3) | ENSP00000489262.1:n.*839A>G | |
| NM_001036.4:c.*839A>G (RYR3) | NP_001027.3:n.*839A>G | |
| NM_001243996.2:c.*839A>G (RYR3) | NP_001230925.1:n.*839A>G | |
| XM_011521880.1:c.*839A>G (RYR3) | XP_011520182.1:n.*839A>G | |
| XM_011521880.2:c.*839A>G (RYR3) | XP_011520182.1:n.*839A>G | |
| XM_017022468.1:c.*839A>G (RYR3) | XP_016877957.1:n.*839A>G | |
| XM_017022469.1:c.*839A>G (RYR3) | XP_016877958.1:n.*839A>G | |
| XM_017022470.2:c.*839A>G (RYR3) | XP_016877959.1:n.*839A>G | |
| XM_017022471.1:c.*839A>G (RYR3) | XP_016877960.1:n.*839A>G | |
| XM_017022472.1:c.*839A>G (RYR3) | XP_016877961.1:n.*839A>G | |
| XM_017022473.1:c.*839A>G (RYR3) | XP_016877962.1:n.*839A>G | |
| XM_017022474.1:c.*839A>G (RYR3) | XP_016877963.1:n.*839A>G | |
| XM_017022475.1:c.*839A>G (RYR3) | XP_016877964.1:n.*839A>G | |
| XM_017022476.1:c.*839A>G (RYR3) | XP_016877965.1:n.*839A>G | |
| XM_024450015.1:c.*839A>G (RYR3) | XP_024305783.1:n.*839A>G | |
| XM_024450016.1:c.*839A>G (RYR3) | XP_024305784.1:n.*839A>G | |
| XR_001751364.2:n.1294+497T>C (AVEN) | ||
| XR_001751369.1:n.15629A>G (RYR3) | ||
| XR_002957666.1:n.1294+497T>C (AVEN) | ||
| XR_002957667.1:n.1294+497T>C (AVEN) | ||
| NM_001036.5:c.*839A>G (RYR3) | NP_001027.3:n.*839A>G | |
| NM_001243996.3:c.*839A>G (RYR3) | NP_001230925.1:n.*839A>G | |
| NM_001036.6:c.*839A>G (RYR3) MANE Select | NP_001027.3:n.*839A>G | |
| NM_001243996.4:c.*839A>G (RYR3) | NP_001230925.1:n.*839A>G |