Revel Score:
ENST00000259407 (MANE Select)
0.189
ENST00000395051
0.189
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003666 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00003459 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101362924G>A , CM000671.2:g.101362924G>A | GRCh38 |
| NC_000009.11:g.104125206G>A , CM000671.1:g.104125206G>A | GRCh37 |
| NC_000009.10:g.103165027G>A | NCBI36 |
| NG_009774.1:g.27082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.761C>T MANE Select | ENSP00000259407.2:p.Thr254Met | |
| ENST00000395051.4:c.761C>T | ENSP00000378491.3:p.Thr254Met | |
| ENST00000674556.1:c.761C>T | ENSP00000501610.1:p.Thr254Met | |
| ENST00000674791.1:c.761C>T | ENSP00000501644.1:p.Thr254Met | |
| ENST00000674909.1:c.761C>T | ENSP00000502812.1:p.Thr254Met | |
| ENST00000259407.6:c.761C>T | ENSP00000259407.2:p.Thr254Met | |
| ENST00000395051.3:c.761C>T | ENSP00000378491.3:p.Thr254Met | |
| NM_001127610.1:c.761C>T | NP_001121082.1:p.Thr254Met | |
| NM_001701.3:c.761C>T | NP_001692.1:p.Thr254Met | |
| NM_001127610.2:c.761C>T | NP_001121082.1:p.Thr254Met | |
| NM_001374715.1:c.761C>T | NP_001361644.1:p.Thr254Met | |
| NM_001701.4:c.761C>T MANE Select | NP_001692.1:p.Thr254Met |