ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005801 (NFE)
Exomes Max Group AF
0.00006069 (NFE)
Revel Score:
ENST00000370258
0.328
ENST00000370263 (MANE Select)
0.328
ENST00000539366
0.328
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349777G>A , CM000682.2:g.63349777G>A | GRCh38 |
| NC_000020.10:g.61981129G>A , CM000682.1:g.61981129G>A | GRCh37 |
| NC_000020.9:g.61451573G>A | NCBI36 |
| NG_011931.1:g.16567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1634C>T MANE Select | ENSP00000359285.4:p.Thr545Met | |
| ENST00000370263.8:c.1634C>T | ENSP00000359285.4:p.Thr545Met | |
| ENST00000463705.5:n.2282C>T | ||
| ENST00000467563.3:n.1704C>T | ||
| ENST00000498043.6:c.1658C>T | ||
| ENST00000615287.4:c.1421C>T | ENSP00000483388.1:p.Thr474Met | |
| ENST00000627000.1:c.*1323C>T | ENSP00000486914.1:n.*1323C>T | |
| ENST00000630240.1:n.1355C>T | ||
| NM_000744.6:c.1634C>T | NP_000735.1:p.Thr545Met | |
| NM_001256573.1:c.1106C>T | NP_001243502.1:p.Thr369Met | |
| NR_046317.1:n.1890C>T | ||
| XM_011528524.1:c.1421C>T | XP_011526826.1:p.Thr474Met | |
| XM_017027625.2:c.1106C>T | XP_016883114.1:p.Thr369Met | |
| XM_024451822.1:c.1106C>T | XP_024307590.1:p.Thr369Met | |
| NM_001256573.2:c.1106C>T | NP_001243502.1:p.Thr369Met | |
| NR_046317.2:n.1843C>T | ||
| NM_000744.7:c.1634C>T MANE Select | NP_000735.1:p.Thr545Met |