ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002082 (NFE)
Revel Score:
ENST00000497424
0.600
ENST00000316562
0.600
ENST00000399552
0.600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3918717C>T , CM000682.2:g.3918717C>T | GRCh38 |
| NC_000020.10:g.3899364C>T , CM000682.1:g.3899364C>T | GRCh37 |
| NC_000020.9:g.3847364C>T | NCBI36 |
| NG_008131.3:g.34879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.1253C>T MANE Select | ENSP00000477429.2:p.Thr418Met | |
| ENST00000316562.9:c.1583C>T | ENSP00000313377.4:p.Thr528Met | |
| ENST00000336066.8:c.*594C>T | ENSP00000477229.2:n.*594C>T | |
| ENST00000610179.6:c.1253C>T | ENSP00000477429.2:p.Thr418Met | |
| ENST00000643504.2:c.*883C>T | ENSP00000495157.2:n.*883C>T | |
| ENST00000646394.1:c.1080C>T | ||
| ENST00000316562.8:c.1583C>T | ENSP00000313377.4:p.Thr528Met | |
| ENST00000336066.7:c.*594C>T | ENSP00000477229.1:n.*594C>T | |
| ENST00000495692.5:c.275C>T | ENSP00000476745.1:p.Thr92Met | |
| ENST00000497424.5:c.710C>T | ENSP00000417609.1:p.Thr237Met | |
| ENST00000610179.5:c.1214C>T | ENSP00000477429.1:p.Thr405Met | |
| ENST00000621507.1:c.710C>T | ENSP00000481523.1:p.Thr237Met | |
| NM_024960.4:c.710C>T | NP_079236.3:p.Thr237Met | |
| NM_153638.2:c.1583C>T | NP_705902.2:p.Thr528Met | |
| NM_153640.2:c.710C>T | NP_705904.1:p.Thr237Met | |
| XM_005260835.2:c.968C>T | XP_005260892.1:p.Thr323Met | |
| XM_005260836.3:c.710C>T | XP_005260893.3:p.Thr237Met | |
| XM_006723631.1:c.710C>T | XP_006723694.1:p.Thr237Met | |
| XM_011529364.1:c.1406C>T | XP_011527666.1:p.Thr469Met | |
| NM_001324191.1:c.710C>T | NP_001311120.1:p.Thr237Met | |
| NM_001324193.1:c.275C>T | NP_001311122.1:p.Thr92Met | |
| NM_024960.5:c.710C>T | NP_079236.3:p.Thr237Met | |
| NM_153638.3:c.1583C>T | NP_705902.2:p.Thr528Met | |
| NM_153640.3:c.710C>T | NP_705904.1:p.Thr237Met | |
| NR_136715.1:n.1607C>T | ||
| XM_005260835.3:c.968C>T | XP_005260892.1:p.Thr323Met | |
| XM_005260836.4:c.710C>T | XP_005260893.3:p.Thr237Met | |
| XM_011529364.3:c.1406C>T | XP_011527666.1:p.Thr469Met | |
| XM_017028077.2:c.275C>T | XP_016883566.1:p.Thr92Met | |
| XM_017028078.2:c.275C>T | XP_016883567.1:p.Thr92Met | |
| XM_017028079.2:c.275C>T | XP_016883568.1:p.Thr92Met | |
| XM_024452002.1:c.275C>T | XP_024307770.1:p.Thr92Met | |
| XR_002958533.1:n.2371C>T | ||
| NM_001324191.2:c.710C>T | NP_001311120.1:p.Thr237Met | |
| NM_001324193.2:c.275C>T | NP_001311122.1:p.Thr92Met | |
| NM_024960.6:c.710C>T | NP_079236.3:p.Thr237Met | |
| NR_136715.2:n.1154C>T | ||
| NM_001386393.1:c.1253C>T MANE Select | NP_001373322.1:p.Thr418Met | |
| NM_153638.4:c.1583C>T | NP_705902.2:p.Thr528Met | |
| NM_153640.4:c.710C>T | NP_705904.1:p.Thr237Met |