Revel Score:
ENST00000294618 (MANE Select)
0.285
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004326 (AMR)
Genomes Max Group AF
0.00002264 (AMR)
Exomes Max Group AF
0.00003017 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11245652G>A , CM000681.2:g.11245652G>A | GRCh38 |
| NC_000019.9:g.11356328G>A , CM000681.1:g.11356328G>A | GRCh37 |
| NC_000019.8:g.11217328G>A | NCBI36 |
| NG_031953.1:g.21841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.934C>T | ENSP00000468638.2:p.His312Tyr | |
| ENST00000294618.12:c.934C>T MANE Select | ENSP00000294618.6:p.His312Tyr | |
| ENST00000294618.11:c.934C>T | ENSP00000294618.6:p.His312Tyr | |
| NM_020812.3:c.934C>T | NP_065863.2:p.His312Tyr | |
| XM_005260000.2:c.934C>T | XP_005260057.1:p.His312Tyr | |
| XM_005260001.2:c.934C>T | XP_005260058.1:p.His312Tyr | |
| XM_011528150.1:c.967C>T | XP_011526452.1:p.His323Tyr | |
| XM_011528151.1:c.967C>T | XP_011526453.1:p.His323Tyr | |
| XM_011528152.1:c.967C>T | XP_011526454.1:p.His323Tyr | |
| XM_011528153.1:c.967C>T | XP_011526455.1:p.His323Tyr | |
| XR_936195.1:n.1028C>T | ||
| XR_936196.1:n.1028C>T | ||
| XR_936197.1:n.1028C>T | ||
| XR_936198.1:n.1028C>T | ||
| NM_001367830.1:c.934C>T | NP_001354759.1:p.His312Tyr | |
| NM_020812.4:c.934C>T MANE Select | NP_065863.2:p.His312Tyr |