Revel Score:
ENST00000263246 (MANE Select)
0.040
ENST00000337959
0.040
ENST00000407585
0.040
ENST00000403744
0.040
ENST00000402229
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42876211G>A , CM000684.2:g.42876211G>A | GRCh38 |
| NC_000022.10:g.43272217G>A , CM000684.1:g.43272217G>A | GRCh37 |
| NC_000022.9:g.41602161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263246.8:c.1274C>T MANE Select | ENSP00000263246.3:p.Ser425Leu | |
| ENST00000263246.7:c.1274C>T | ENSP00000263246.3:p.Ser425Leu | |
| ENST00000337959.8:c.1151C>T | ENSP00000338379.4:p.Ser384Leu | |
| ENST00000402229.5:c.1274C>T | ENSP00000385040.1:p.Ser425Leu | |
| ENST00000403744.7:c.1274C>T | ENSP00000385372.3:p.Ser425Leu | |
| ENST00000407585.5:c.1151C>T | ENSP00000385952.1:p.Ser384Leu | |
| ENST00000634914.1:c.1280C>T | ENSP00000489297.1:p.Ser427Leu | |
| NM_001184970.1:c.1274C>T | NP_001171899.1:p.Ser425Leu | |
| NM_001184971.1:c.1151C>T | NP_001171900.1:p.Ser384Leu | |
| NM_007229.3:c.1274C>T | NP_009160.2:p.Ser425Leu | |
| XM_005261319.3:c.1151C>T | XP_005261376.1:p.Ser384Leu | |
| XM_011529846.1:c.1280C>T | XP_011528148.1:p.Ser427Leu | |
| XM_011529847.1:c.1280C>T | XP_011528149.1:p.Ser427Leu | |
| XM_011529848.1:c.1280C>T | XP_011528150.1:p.Ser427Leu | |
| XM_011529849.1:c.1280C>T | XP_011528151.1:p.Ser427Leu | |
| XM_011529850.1:c.1280C>T | XP_011528152.1:p.Ser427Leu | |
| XM_011529851.1:c.1280C>T | XP_011528153.1:p.Ser427Leu | |
| XM_011529852.1:c.1157C>T | XP_011528154.1:p.Ser386Leu | |
| XM_011529853.1:c.1157C>T | XP_011528155.1:p.Ser386Leu | |
| NM_001184970.2:c.1274C>T | NP_001171899.1:p.Ser425Leu | |
| NM_001349968.1:c.1157C>T | NP_001336897.1:p.Ser386Leu | |
| NM_001349969.1:c.1280C>T | NP_001336898.1:p.Ser427Leu | |
| NM_001349970.1:c.1280C>T | NP_001336899.1:p.Ser427Leu | |
| NM_001349971.1:c.1157C>T | NP_001336900.1:p.Ser386Leu | |
| NM_001349972.1:c.1157C>T | NP_001336901.1:p.Ser386Leu | |
| NM_001349973.1:c.1157C>T | NP_001336902.1:p.Ser386Leu | |
| NM_001349974.1:c.1034C>T | NP_001336903.1:p.Ser345Leu | |
| XM_005261319.4:c.1151C>T | XP_005261376.1:p.Ser384Leu | |
| XM_011529847.3:c.1280C>T | XP_011528149.1:p.Ser427Leu | |
| XM_011529848.2:c.1280C>T | XP_011528150.1:p.Ser427Leu | |
| XM_011529849.3:c.1280C>T | XP_011528151.1:p.Ser427Leu | |
| XM_011529850.3:c.1280C>T | XP_011528152.1:p.Ser427Leu | |
| XM_011529852.2:c.1157C>T | XP_011528154.1:p.Ser386Leu | |
| XM_017028562.2:c.1280C>T | XP_016884051.1:p.Ser427Leu | |
| XM_017028563.1:c.1280C>T | XP_016884052.1:p.Ser427Leu | |
| XM_017028564.2:c.1274C>T | XP_016884053.1:p.Ser425Leu | |
| NM_001184970.3:c.1274C>T MANE Select | NP_001171899.1:p.Ser425Leu | |
| NM_001349969.2:c.1280C>T | NP_001336898.1:p.Ser427Leu | |
| NM_001349970.2:c.1280C>T | NP_001336899.1:p.Ser427Leu | |
| NM_001349971.2:c.1157C>T | NP_001336900.1:p.Ser386Leu | |
| NM_001349974.2:c.1034C>T | NP_001336903.1:p.Ser345Leu |