ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
malignant hyperthermia of anesthesia
Revel Score:
ENST00000359596 (MANE Select)
0.917
ENST00000355481
0.917
ENST00000360985
0.917
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572185G>A , CM000681.2:g.38572185G>A | GRCh38 |
| NC_000019.9:g.39062825G>A , CM000681.1:g.39062825G>A | GRCh37 |
| NC_000019.8:g.43754665G>A | NCBI36 |
| NG_008866.1:g.143486G>A , LRG_766:g.143486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.849G>A | ||
| ENST00000688602.1:c.2246G>A | ||
| ENST00000689936.1:c.2218G>A | ||
| ENST00000359596.8:c.13913G>A MANE Select | ENSP00000352608.2:p.Gly4638Asp | |
| ENST00000355481.8:c.13898G>A | ENSP00000347667.3:p.Gly4633Asp | |
| ENST00000359596.7:c.13913G>A | ENSP00000352608.2:p.Gly4638Asp | |
| ENST00000360985.7:c.13895G>A | ENSP00000354254.4:p.Gly4632Asp | |
| ENST00000593677.1:c.373G>A | ||
| NM_000540.2:c.13913G>A , LRG_766t1:c.13913G>A | NP_000531.2:p.Gly4638Asp | |
| NM_001042723.1:c.13898G>A | NP_001036188.1:p.Gly4633Asp | |
| XM_006723317.1:c.13895G>A | XP_006723380.1:p.Gly4632Asp | |
| XM_006723319.1:c.13880G>A | XP_006723382.1:p.Gly4627Asp | |
| XM_011527204.1:c.13910G>A | XP_011525506.1:p.Gly4637Asp | |
| XM_011527205.1:c.13826G>A | XP_011525507.1:p.Gly4609Asp | |
| XM_006723317.2:c.13895G>A | XP_006723380.1:p.Gly4632Asp | |
| XM_006723319.2:c.13880G>A | XP_006723382.1:p.Gly4627Asp | |
| XM_011527205.2:c.13826G>A | XP_011525507.1:p.Gly4609Asp | |
| NM_000540.3:c.13913G>A MANE Select | NP_000531.2:p.Gly4638Asp | |
| NM_001042723.2:c.13898G>A | NP_001036188.1:p.Gly4633Asp |