Revel Score:
ENST00000269143 (MANE Select)
0.280
ENST00000537174
0.280
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00175047 (AFR)
Genomes Max Group AF
0.00169444 (AFR)
Exomes Max Group AF
0.00158927 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12358903C>T , CM000680.2:g.12358903C>T | GRCh38 |
| NC_000018.9:g.12358902C>T , CM000680.1:g.12358902C>T | GRCh37 |
| NC_000018.8:g.12348902C>T | NCBI36 |
| NG_023361.1:g.23374G>A , LRG_666:g.23374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*389G>A | ENSP00000508998.1:n.*389G>A | |
| ENST00000688199.1:c.793G>A | ENSP00000510237.1:p.Ala265Thr | |
| ENST00000691179.1:c.718G>A | ENSP00000509010.1:p.Ala240Thr | |
| ENST00000691970.1:c.*170G>A | ENSP00000508440.1:n.*170G>A | |
| ENST00000692497.1:c.793G>A | ENSP00000509870.1:p.Ala265Thr | |
| ENST00000692988.1:n.611G>A | ||
| ENST00000269143.8:c.793G>A MANE Select | ENSP00000269143.2:p.Ala265Thr | |
| ENST00000269143.7:c.793G>A | ENSP00000269143.2:p.Ala265Thr | |
| ENST00000590811.1:c.428G>A | ||
| ENST00000591848.1:n.348G>A | ||
| NM_006796.2:c.793G>A , LRG_666t1:c.793G>A | NP_006787.2:p.Ala265Thr | |
| XM_011525601.1:c.793G>A | XP_011523903.1:p.Ala265Thr | |
| XM_011525601.3:c.793G>A | XP_011523903.1:p.Ala265Thr | |
| NM_006796.3:c.793G>A MANE Select | NP_006787.2:p.Ala265Thr |