Linked Data
ClinVar Variation Id:
461870
ClinVar RCV Id:
RCV000559875
dbSNP Id:
rs201701548
ExAC:
15:34146963 C / G
gnomAD v2:
15-34146963-C-G
gnomAD v3:
15-33854762-C-G
gnomAD v4:
15-33854762-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33854762C>G , CM000677.2:g.33854762C>G | GRCh38 |
| NC_000015.9:g.34146963C>G , CM000677.1:g.34146963C>G | GRCh37 |
| NC_000015.8:g.31934255C>G | NCBI36 |
| NG_047076.1:g.548980C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634891.2:c.13861-4C>G (RYR3) MANE Select | ENSP00000489262.1:n.13861-4C>G | |
| ENST00000635790.1:c.7123-4C>G (RYR3) | ||
| ENST00000636568.1:c.654-4C>G (RYR3) | ||
| ENST00000636845.1:c.1202-4C>G (RYR3) | ||
| ENST00000637072.1:n.1588-4C>G (RYR3) | ||
| ENST00000637948.1:c.1410-4C>G (RYR3) | ||
| ENST00000638052.1:n.1024-4C>G (RYR3) | ||
| ENST00000389232.9:c.13858-4C>G (RYR3) | ENSP00000373884.5:n.13858-4C>G | |
| ENST00000415757.7:c.13846-4C>G (RYR3) | ENSP00000399610.3:n.13846-4C>G | |
| ENST00000559917.5:n.480-4C>G (RYR3) | ||
| ENST00000560791.2:n.399-4C>G (RYR3) | ||
| ENST00000622037.1:c.13870-4C>G (RYR3) | ENSP00000483166.1:n.13870-4C>G | |
| ENST00000634418.1:c.13828-4C>G (RYR3) | ENSP00000489529.1:n.13828-4C>G | |
| ENST00000634730.1:c.1096-4C>G (RYR3) | ENSP00000489346.1:n.1096-4C>G | |
| ENST00000634891.1:c.13861-4C>G (RYR3) | ENSP00000489262.1:n.13861-4C>G | |
| NM_001036.4:c.13861-4C>G (RYR3) | NP_001027.3:n.13861-4C>G | |
| NM_001243996.2:c.13846-4C>G (RYR3) | NP_001230925.1:n.13846-4C>G | |
| XM_011521880.1:c.13828-4C>G (RYR3) | XP_011520182.1:n.13828-4C>G | |
| XR_932092.1:n.681+79G>C | ||
| XR_932093.1:n.602+79G>C | ||
| XM_011521880.2:c.13828-4C>G (RYR3) | XP_011520182.1:n.13828-4C>G | |
| XM_017022468.1:c.13849-4C>G (RYR3) | XP_016877957.1:n.13849-4C>G | |
| XM_017022469.1:c.13846-4C>G (RYR3) | XP_016877958.1:n.13846-4C>G | |
| XM_017022470.2:c.13846-4C>G (RYR3) | XP_016877959.1:n.13846-4C>G | |
| XM_017022471.1:c.13846-4C>G (RYR3) | XP_016877960.1:n.13846-4C>G | |
| XM_017022472.1:c.13843-4C>G (RYR3) | XP_016877961.1:n.13843-4C>G | |
| XM_017022473.1:c.13831-4C>G (RYR3) | XP_016877962.1:n.13831-4C>G | |
| XM_017022474.1:c.13828-4C>G (RYR3) | XP_016877963.1:n.13828-4C>G | |
| XM_017022475.1:c.13762-4C>G (RYR3) | XP_016877964.1:n.13762-4C>G | |
| XM_017022476.1:c.13741-4C>G (RYR3) | XP_016877965.1:n.13741-4C>G | |
| XM_024450015.1:c.13843-4C>G (RYR3) | XP_024305783.1:n.13843-4C>G | |
| XM_024450016.1:c.13840-4C>G (RYR3) | XP_024305784.1:n.13840-4C>G | |
| XR_001751364.2:n.4405+79G>C (AVEN) | ||
| XR_001751369.1:n.14038-4C>G (RYR3) | ||
| XR_002957666.1:n.4400+79G>C (AVEN) | ||
| XR_002957667.1:n.1822+79G>C (AVEN) | ||
| NM_001036.5:c.13861-4C>G (RYR3) | NP_001027.3:n.13861-4C>G | |
| NM_001243996.3:c.13846-4C>G (RYR3) | NP_001230925.1:n.13846-4C>G | |
| NM_001036.6:c.13861-4C>G (RYR3) MANE Select | NP_001027.3:n.13861-4C>G | |
| NM_001243996.4:c.13846-4C>G (RYR3) | NP_001230925.1:n.13846-4C>G |