Revel Score:
ENST00000461574
0.016
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090983G>A , CM000679.2:g.43090983G>A | GRCh38 |
| NC_000017.10:g.41243000G>A , CM000679.1:g.41243000G>A | GRCh37 |
| NC_000017.9:g.38496526G>A | NCBI36 |
| NG_005905.2:g.127001C>T , LRG_292:g.127001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4146C>T | ENSP00000417241.2:p.Cys1382= | |
| ENST00000470026.6:c.4146C>T | ENSP00000419274.2:p.Cys1382= | |
| ENST00000473961.6:c.4020C>T | ENSP00000420201.2:p.Cys1340= | |
| ENST00000476777.6:c.4143C>T | ENSP00000417554.2:p.Cys1381= | |
| ENST00000477152.6:c.4068C>T | ENSP00000419988.2:p.Cys1356= | |
| ENST00000478531.6:c.834C>T | ENSP00000420412.2:p.Cys278= | |
| ENST00000489037.2:c.4068C>T | ENSP00000420781.2:p.Cys1356= | |
| ENST00000493919.6:c.696C>T | ENSP00000418819.2:p.Cys232= | |
| ENST00000494123.6:c.4146C>T | ENSP00000419103.2:p.Cys1382= | |
| ENST00000497488.2:c.3258C>T | ENSP00000418986.2:p.Cys1086= | |
| ENST00000618469.2:c.4146C>T | ENSP00000478114.2:p.Cys1382= | |
| ENST00000634433.2:c.4023C>T | ENSP00000489431.2:p.Cys1341= | |
| ENST00000644379.2:c.4146C>T | ENSP00000496570.2:p.Cys1382= | |
| ENST00000644555.2:c.696C>T | ENSP00000494614.2:p.Cys232= | |
| ENST00000652672.2:c.4005C>T | ENSP00000498906.2:p.Cys1335= | |
| ENST00000484087.6:c.714C>T | ENSP00000419481.2:p.Cys238= | |
| ENST00000700182.1:c.756C>T | ENSP00000514849.1:p.Cys252= | |
| ENST00000357654.9:c.4146C>T MANE Select | ENSP00000350283.3:p.Cys1382= | |
| ENST00000471181.7:c.4146C>T | ENSP00000418960.2:p.Cys1382= | |
| ENST00000644379.1:c.467C>T | ||
| ENST00000352993.7:c.720C>T | ENSP00000312236.5:p.Cys240= | |
| ENST00000357654.7:c.4146C>T | ENSP00000350283.3:p.Cys1382= | |
| ENST00000461221.5:c.*3929C>T | ENSP00000418548.1:n.*3929C>T | |
| ENST00000461574.1:c.440C>T | ||
| ENST00000468300.5:c.837C>T | ENSP00000417148.1:p.Cys279= | |
| ENST00000471181.6:c.4146C>T | ENSP00000418960.2:p.Cys1382= | |
| ENST00000478531.5:c.834C>T | ENSP00000420412.1:p.Cys278= | |
| ENST00000484087.5:c.459C>T | ENSP00000419481.1:p.Cys153= | |
| ENST00000487825.5:c.462C>T | ENSP00000418212.1:p.Cys154= | |
| ENST00000491747.6:c.837C>T | ENSP00000420705.2:p.Cys279= | |
| ENST00000493795.5:c.4005C>T | ENSP00000418775.1:p.Cys1335= | |
| ENST00000493919.5:c.696C>T | ENSP00000418819.1:p.Cys232= | |
| ENST00000586385.5:c.5-27032C>T | ENSP00000465818.1:n.5-27032C>T | |
| ENST00000591534.5:c.-43-16462C>T | ENSP00000467329.1:n.-43-16462C>T | |
| ENST00000591849.5:c.-99+34288C>T | ENSP00000465347.1:n.-99+34288C>T | |
| NM_007294.3:c.4146C>T , LRG_292t1:c.4146C>T | NP_009225.1:p.Cys1382= | |
| NM_007297.3:c.4005C>T | NP_009228.2:p.Cys1335= | |
| NM_007298.3:c.837C>T | NP_009229.2:p.Cys279= | |
| NM_007299.3:c.837C>T | NP_009230.2:p.Cys279= | |
| NM_007300.3:c.4146C>T | NP_009231.2:p.Cys1382= | |
| NR_027676.1:n.4282C>T | ||
| NM_007294.4:c.4146C>T MANE Select | NP_009225.1:p.Cys1382= | |
| NM_007297.4:c.4005C>T | NP_009228.2:p.Cys1335= | |
| NM_007299.4:c.837C>T | NP_009230.2:p.Cys279= | |
| NM_007300.4:c.4146C>T | NP_009231.2:p.Cys1382= | |
| NR_027676.2:n.4323C>T |