Revel Score:
ENST00000326873 (MANE Select)
0.071
ENST00000405031
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001485 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001324 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226603G>T , CM000681.2:g.1226603G>T | GRCh38 |
| NC_000019.9:g.1226602G>T , CM000681.1:g.1226602G>T | GRCh37 |
| NC_000019.8:g.1177602G>T | NCBI36 |
| NG_007460.2:g.42197G>T , LRG_319:g.42197G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2859G>T | ENSP00000490268.2:n.*2859G>T | |
| ENST00000585748.3:c.886G>T | ENSP00000477641.2:p.Ala296Ser | |
| ENST00000585851.2:c.1084G>T | ENSP00000467912.2:p.Ala362Ser | |
| ENST00000326873.12:c.1258G>T MANE Select | ENSP00000324856.6:p.Ala420Ser | |
| ENST00000326873.11:c.1258G>T | ENSP00000324856.6:p.Ala420Ser | |
| ENST00000585465.2:n.2991G>T | ||
| ENST00000586243.5:c.1255G>T | ENSP00000467240.2:p.Ala419Ser | |
| ENST00000589152.5:n.1956G>T | ||
| NM_000455.4:c.1258G>T , LRG_319t1:c.1258G>T | NP_000446.1:p.Ala420Ser | |
| XM_005259617.1:c.1253G>T | XP_005259674.1:p.Arg418Leu | |
| XM_011528209.1:c.1031G>T | XP_011526511.1:p.Arg344Leu | |
| XM_005259617.3:c.1253G>T | XP_005259674.1:p.Arg418Leu | |
| XM_011528209.2:c.1031G>T | XP_011526511.1:p.Arg344Leu | |
| XR_001753738.2:n.2064G>T | ||
| XR_001753740.2:n.2034G>T | ||
| NM_000455.5:c.1258G>T MANE Select | NP_000446.1:p.Ala420Ser |