Revel Score:
ENST00000381884 (MANE Select)
0.353
ENST00000545981
0.353
ENST00000445729
0.353
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01349358 (EAS)
Genomes Max Group AF
0.01532819 (EAS)
Exomes Max Group AF
0.01294573 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24905576G>A , CM000675.2:g.24905576G>A | GRCh38 |
| NC_000013.10:g.25479714G>A , CM000675.1:g.25479714G>A | GRCh37 |
| NC_000013.9:g.24377714G>A | NCBI36 |
| NG_009165.2:g.22372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.2462C>T MANE Select | ENSP00000371308.4:p.Thr821Met | |
| ENST00000545981.6:c.2462C>T | ENSP00000441090.2:p.Thr821Met | |
| ENST00000381884.8:c.2462C>T | ENSP00000371308.4:p.Thr821Met | |
| ENST00000545981.5:c.2462C>T | ENSP00000441090.2:p.Thr821Met | |
| ENST00000616936.4:c.2462C>T | ENSP00000477511.1:p.Thr821Met | |
| NM_018451.4:c.2462C>T | NP_060921.3:p.Thr821Met | |
| NR_047594.1:n.2657C>T | ||
| NR_047595.1:n.2657C>T | ||
| XM_011535149.1:c.2462C>T | XP_011533451.1:p.Thr821Met | |
| XM_011535150.1:c.2462C>T | XP_011533452.1:p.Thr821Met | |
| XM_011535151.1:c.2462C>T | XP_011533453.1:p.Thr821Met | |
| XR_941627.1:n.2657C>T | ||
| XR_941628.1:n.2657C>T | ||
| XM_011535149.2:c.2462C>T | XP_011533451.1:p.Thr821Met | |
| XM_011535150.2:c.2462C>T | XP_011533452.1:p.Thr821Met | |
| XM_017020673.1:c.2462C>T | XP_016876162.1:p.Thr821Met | |
| NM_018451.5:c.2462C>T MANE Select | NP_060921.3:p.Thr821Met | |
| NR_047594.2:n.2629C>T | ||
| NR_047595.2:n.2629C>T |