Revel Score:
ENST00000262888
0.249
ENST00000407385
0.249
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014938 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00015407 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43767634G>A , CM000681.2:g.43767634G>A | GRCh38 |
| NC_000019.9:g.44271786G>A , CM000681.1:g.44271786G>A | GRCh37 |
| NC_000019.8:g.48963626G>A | NCBI36 |
| NG_052672.1:g.19506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601549.2:n.1224C>T | ||
| ENST00000648053.1:n.625C>T | ||
| ENST00000648319.1:c.1193C>T MANE Select | ENSP00000496939.1:p.Thr398Met | |
| ENST00000262888.7:c.1193C>T | ENSP00000262888.3:p.Thr398Met | |
| ENST00000597184.5:n.269C>T | ||
| ENST00000598836.1:c.405C>T | ||
| ENST00000599720.5:c.*463C>T | ENSP00000472513.1:n.*463C>T | |
| ENST00000600408.1:c.591C>T | ENSP00000472510.1:n.591C>T | |
| ENST00000600909.1:c.89C>T | ENSP00000470339.1:p.Thr30Met | |
| ENST00000601549.1:n.911C>T | ||
| ENST00000615047.4:c.797C>T | ENSP00000485014.1:p.Thr266Met | |
| NM_002250.2:c.1193C>T | NP_002241.1:p.Thr398Met | |
| XM_005258882.2:c.1097C>T | XP_005258939.1:p.Thr366Met | |
| XM_005258883.2:c.1004C>T | XP_005258940.1:p.Thr335Met | |
| XR_935823.1:n.2439C>T | ||
| XR_002958313.1:n.2585C>T | ||
| NM_002250.3:c.1193C>T MANE Select | NP_002241.1:p.Thr398Met |