Revel Score:
ENST00000424970
0.482
ENST00000356736 (MANE Select)
0.482
ENST00000394833
0.482
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002978 (EAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002828 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102267997G>A , CM000666.2:g.102267997G>A | GRCh38 |
| NC_000004.11:g.103189154G>A , CM000666.1:g.103189154G>A | GRCh37 |
| NC_000004.10:g.103408177G>A | NCBI36 |
| NG_047177.1:g.82502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424970.7:c.948C>T | ENSP00000394548.3:p.Asn316= | |
| ENST00000682227.1:c.923C>T | ENSP00000508363.1:p.Thr308Met | |
| ENST00000682243.1:c.*1069C>T | ENSP00000507952.1:n.*1069C>T | |
| ENST00000682549.1:c.948C>T | ENSP00000507483.1:p.Asn316= | |
| ENST00000682932.1:c.923C>T | ENSP00000507414.1:p.Thr308Met | |
| ENST00000683173.1:c.*1044C>T | ENSP00000508032.1:n.*1044C>T | |
| ENST00000683221.1:c.923C>T | ENSP00000508093.1:p.Thr308Met | |
| ENST00000683401.1:n.856C>T | ||
| ENST00000683412.1:c.923C>T | ENSP00000507538.1:p.Thr308Met | |
| ENST00000683462.1:c.948C>T | ENSP00000507170.1:p.Asn316= | |
| ENST00000683634.1:c.*1044C>T | ENSP00000507087.1:n.*1044C>T | |
| ENST00000683706.1:c.327C>T | ENSP00000506745.1:p.Asn109= | |
| ENST00000683916.1:c.948C>T | ENSP00000508106.1:p.Asn316= | |
| ENST00000684289.1:c.*598C>T | ENSP00000506748.1:n.*598C>T | |
| ENST00000684386.1:c.*137C>T | ENSP00000507611.1:n.*137C>T | |
| ENST00000356736.5:c.923C>T MANE Select | ENSP00000349174.4:p.Thr308Met | |
| ENST00000356736.4:c.923C>T | ENSP00000349174.4:p.Thr308Met | |
| ENST00000394833.6:c.923C>T | ENSP00000378310.2:p.Thr308Met | |
| ENST00000424970.6:c.923C>T | ENSP00000394548.2:p.Thr308Met | |
| NM_001135146.1:c.923C>T | NP_001128618.1:p.Thr308Met | |
| NM_001135147.1:c.923C>T | NP_001128619.1:p.Thr308Met | |
| NM_001135148.1:c.722C>T | NP_001128620.1:p.Thr241Met | |
| NM_022154.5:c.923C>T | NP_071437.3:p.Thr308Met | |
| XM_005263177.1:c.923C>T | XP_005263234.1:p.Thr308Met | |
| XM_011532182.1:c.281C>T | XP_011530484.1:p.Thr94Met | |
| XM_005263177.2:c.923C>T | XP_005263234.1:p.Thr308Met | |
| XM_017008541.1:c.722C>T | XP_016864030.1:p.Thr241Met | |
| XM_024454184.1:c.923C>T | XP_024309952.1:p.Thr308Met | |
| NM_001135146.2:c.923C>T MANE Select | NP_001128618.1:p.Thr308Met | |
| NM_001135148.2:c.722C>T | NP_001128620.1:p.Thr241Met |