Revel Score:
ENST00000258960 (MANE Select)
0.187
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45103045C>T , CM000679.2:g.45103045C>T | GRCh38 |
| NC_000017.10:g.43180413C>T , CM000679.1:g.43180413C>T | GRCh37 |
| NC_000017.9:g.40535939C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258960.7:c.1088C>T MANE Select | ENSP00000258960.2:p.Thr363Met | |
| ENST00000587014.2:n.1114C>T | ||
| ENST00000587670.2:c.*844C>T | ENSP00000504365.1:n.*844C>T | |
| ENST00000590114.6:c.971C>T | ENSP00000504284.1:n.971C>T | |
| ENST00000591931.2:n.1114C>T | ||
| ENST00000592654.3:c.848C>T | ENSP00000466827.2:p.Thr283Met | |
| ENST00000676753.1:c.*1162C>T | ENSP00000503505.1:n.*1162C>T | |
| ENST00000676828.1:c.1088C>T | ENSP00000504192.1:p.Thr363Met | |
| ENST00000677949.1:c.1088C>T | ENSP00000504048.1:p.Thr363Met | |
| ENST00000678332.1:c.*936C>T | ENSP00000504484.1:n.*936C>T | |
| ENST00000678576.1:c.1088C>T | ENSP00000503635.1:p.Thr363Met | |
| ENST00000678606.1:n.1114C>T | ||
| ENST00000678938.1:c.848C>T | ENSP00000503621.1:p.Thr283Met | |
| ENST00000258960.6:c.1088C>T | ENSP00000258960.2:p.Thr363Met | |
| ENST00000587014.1:n.83C>T | ||
| ENST00000592782.5:c.1088C>T | ENSP00000468424.1:p.Thr363Met | |
| NM_021079.4:c.1088C>T | NP_066565.1:p.Thr363Met | |
| XM_011524858.1:c.1088C>T | XP_011523160.1:p.Thr363Met | |
| XR_002958013.1:n.1098C>T | ||
| NM_021079.5:c.1088C>T MANE Select | NP_066565.1:p.Thr363Met |