Revel Score:
ENST00000289575 (MANE Select)
0.208
ENST00000341411
0.208
ENST00000532236
0.208
ENST00000531756
0.208
ENST00000525650
0.208
ENST00000454962
0.208
ENST00000428359
0.208
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75172532G>T , CM000673.2:g.75172532G>T | GRCh38 |
| NC_000011.9:g.74883577G>T , CM000673.1:g.74883577G>T | GRCh37 |
| NC_000011.8:g.74561225G>T | NCBI36 |
| NG_027921.1:g.26546G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289575.10:c.935G>T MANE Select | ENSP00000289575.5:p.Arg312Leu | |
| ENST00000289575.9:c.935G>T | ENSP00000289575.5:p.Arg312Leu | |
| ENST00000428359.6:c.869G>T | ENSP00000388912.2:p.Arg290Leu | |
| ENST00000454962.6:c.254G>T | ENSP00000389653.2:p.Arg85Leu | |
| ENST00000525650.5:c.503G>T | ENSP00000436324.1:p.Arg168Leu | |
| ENST00000526660.5:n.447G>T | ||
| ENST00000531756.5:n.482G>T | ||
| ENST00000532236.5:c.587G>T | ENSP00000434112.1:p.Arg196Leu | |
| NM_001145211.2:c.869G>T | NP_001138683.1:p.Arg290Leu | |
| NM_001145212.2:c.503G>T | NP_001138684.1:p.Arg168Leu | |
| NM_007256.4:c.935G>T | NP_009187.1:p.Arg312Leu | |
| XM_017017157.1:c.941G>T | XP_016872646.1:p.Arg314Leu | |
| NM_001145211.3:c.869G>T | NP_001138683.1:p.Arg290Leu | |
| NM_001145212.3:c.503G>T | NP_001138684.1:p.Arg168Leu | |
| NM_007256.5:c.935G>T MANE Select | NP_009187.1:p.Arg312Leu |