Revel Score:
ENST00000211998 (MANE Select)
0.215
ENST00000415462
0.215
ENST00000436396
0.215
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74112087G>T , CM000672.2:g.74112087G>T | GRCh38 |
| NC_000010.10:g.75871845G>T , CM000672.1:g.75871845G>T | GRCh37 |
| NC_000010.9:g.75541851G>T | NCBI36 |
| NG_008868.1:g.118974G>T , LRG_383:g.118974G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.2924G>T MANE Select | ENSP00000211998.5:p.Arg975Leu | |
| ENST00000211998.8:c.2924G>T | ENSP00000211998.4:p.Arg975Leu | |
| ENST00000372755.7:c.2746-2097G>T | ENSP00000361841.3:n.2746-2097G>T | |
| ENST00000436396.1:c.1940G>T | ENSP00000415489.1:p.Arg647Leu | |
| ENST00000623461.3:n.5549-2097G>T | ||
| ENST00000624354.3:c.*2679G>T | ENSP00000485551.1:n.*2679G>T | |
| NM_003373.3:c.2746-2097G>T | NP_003364.1:n.2746-2097G>T | |
| NM_014000.2:c.2924G>T , LRG_383t1:c.2924G>T | NP_054706.1:p.Arg975Leu | |
| XM_005270142.1:c.2927G>T | XP_005270199.1:p.Arg976Leu | |
| XM_005270143.1:c.2749-2097G>T | XP_005270200.1:n.2749-2097G>T | |
| NM_003373.4:c.2746-2097G>T | NP_003364.1:n.2746-2097G>T | |
| NM_014000.3:c.2924G>T MANE Select | NP_054706.1:p.Arg975Leu |