Revel Score:
ENST00000414311
0.857
ENST00000376369
0.857
ENST00000196061 (MANE Select)
0.857
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
8.4e-7 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974738C>T , CM000663.2:g.11974738C>T | GRCh38 |
| NC_000001.10:g.12034795C>T , CM000663.1:g.12034795C>T | GRCh37 |
| NC_000001.9:g.11957382C>T | NCBI36 |
| NG_008159.1:g.45050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.2114C>T MANE Select | ENSP00000196061.4:p.Thr705Met | |
| ENST00000196061.4:c.2114C>T | ENSP00000196061.4:p.Thr705Met | |
| ENST00000481933.1:n.1541C>T | ||
| ENST00000491536.5:n.384-545C>T | ||
| NM_000302.3:c.2114C>T | NP_000293.2:p.Thr705Met | |
| NM_001316320.1:c.2255C>T | NP_001303249.1:p.Thr752Met | |
| XM_011541594.1:c.2195C>T | XP_011539896.1:p.Thr732Met | |
| XM_024447707.1:c.1448C>T | XP_024303475.1:p.Thr483Met | |
| NM_000302.4:c.2114C>T MANE Select | NP_000293.2:p.Thr705Met | |
| NM_001316320.2:c.2255C>T | NP_001303249.1:p.Thr752Met |