Revel Score:
ENST00000261534 (MANE Select)
0.200
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008832 (EAS)
Genomes Max Group AF
0.00006816 (EAS)
Exomes Max Group AF
0.0000651 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77299488G>A , CM000676.2:g.77299488G>A | GRCh38 |
| NC_000014.8:g.77765831G>A , CM000676.1:g.77765831G>A | GRCh37 |
| NC_000014.7:g.76835584G>A | NCBI36 |
| NG_008897.1:g.26395C>T , LRG_844:g.26395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.343C>T | ENSP00000508202.1:n.343C>T | |
| ENST00000556394.2:c.431C>T | ENSP00000451967.2:p.Thr144Ile | |
| ENST00000557289.2:c.188C>T | ||
| ENST00000682247.1:c.890C>T | ENSP00000507213.1:p.Thr297Ile | |
| ENST00000682382.1:c.496-717C>T | ||
| ENST00000682395.1:n.619C>T | ||
| ENST00000682459.1:n.554C>T | ||
| ENST00000682467.1:c.890C>T | ENSP00000508062.1:p.Thr297Ile | |
| ENST00000682795.1:c.890C>T | ENSP00000507574.1:p.Thr297Ile | |
| ENST00000682895.1:n.606C>T | ||
| ENST00000682955.1:n.212-717C>T | ||
| ENST00000683167.1:c.270C>T | ||
| ENST00000683188.1:c.416C>T | ||
| ENST00000683300.1:c.110-3215C>T | ENSP00000507630.1:n.110-3215C>T | |
| ENST00000683328.1:c.109+5204C>T | ENSP00000508096.1:n.109+5204C>T | |
| ENST00000683380.1:n.554C>T | ||
| ENST00000683398.1:c.264C>T | ||
| ENST00000683551.1:c.110-717C>T | ||
| ENST00000683828.1:c.599C>T | ||
| ENST00000684259.1:n.741C>T | ||
| ENST00000684549.1:n.441C>T | ||
| ENST00000684554.1:c.161-717C>T | ||
| ENST00000261534.9:c.890C>T MANE Select | ENSP00000261534.4:p.Thr297Ile | |
| ENST00000261534.8:c.890C>T | ENSP00000261534.4:p.Thr297Ile | |
| ENST00000452340.7:n.913C>T | ||
| ENST00000553863.5:n.554C>T | ||
| ENST00000554767.5:n.1676C>T | ||
| ENST00000557289.1:c.129C>T | ENSP00000451115.1:p.His43= | |
| NM_013382.5:c.890C>T , LRG_844t1:c.890C>T | NP_037514.2:p.Thr297Ile | |
| XM_011536675.1:c.890C>T | XP_011534977.1:p.Thr297Ile | |
| XM_011536676.1:c.557C>T | XP_011534978.1:p.Thr186Ile | |
| XM_011536677.1:c.548-3215C>T | XP_011534979.1:n.548-3215C>T | |
| XM_011536678.1:c.890C>T | XP_011534980.1:p.Thr297Ile | |
| XM_011536679.1:c.-17C>T | XP_011534981.1:n.-17C>T | |
| XM_011536680.1:c.890C>T | XP_011534982.1:p.Thr297Ile | |
| XR_943416.1:n.1093C>T | ||
| XM_011536675.2:c.890C>T | XP_011534977.1:p.Thr297Ile | |
| XM_011536676.2:c.557C>T | XP_011534978.1:p.Thr186Ile | |
| XM_011536677.3:c.548-3215C>T | XP_011534979.1:n.548-3215C>T | |
| XR_001750279.1:n.1090C>T | ||
| XR_001750282.1:n.1094C>T | ||
| XR_943416.3:n.1091C>T | ||
| NM_013382.6:c.890C>T | NP_037514.2:p.Thr297Ile | |
| NM_013382.7:c.890C>T MANE Select | NP_037514.2:p.Thr297Ile |