Revel Score:
ENST00000389653
0.262
ENST00000340083 (MANE Select)
0.262
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025656 (AFR)
Genomes Max Group AF
0.00035777 (AFR)
Exomes Max Group AF
0.00005981 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3492993C>T , CM000666.2:g.3492993C>T | GRCh38 |
| NC_000004.11:g.3494720C>T , CM000666.1:g.3494720C>T | GRCh37 |
| NC_000004.10:g.3464518C>T | NCBI36 |
| NG_013072.2:g.34688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.1007C>T MANE Select | ENSP00000344432.5:p.Ser336Leu | |
| ENST00000643608.1:c.575C>T | ENSP00000495701.1:p.Ser192Leu | |
| ENST00000340083.5:c.1007C>T | ENSP00000344432.5:p.Ser336Leu | |
| ENST00000507039.5:c.*228C>T | ENSP00000423614.1:n.*228C>T | |
| ENST00000512714.1:n.199C>T | ||
| ENST00000515886.5:n.775C>T | ||
| NM_001164673.1:c.*228C>T | NP_001158145.1:n.*228C>T | |
| NM_001256896.1:c.77C>T | NP_001243825.1:p.Ser26Leu | |
| NM_001301071.1:c.1007C>T | NP_001288000.1:p.Ser336Leu | |
| NM_173660.4:c.1007C>T | NP_775931.3:p.Ser336Leu | |
| XM_011513435.1:c.1007C>T | XP_011511737.1:p.Ser336Leu | |
| XM_011513436.1:c.1007C>T | XP_011511738.1:p.Ser336Leu | |
| XM_011513437.1:c.593C>T | XP_011511739.1:p.Ser198Leu | |
| NM_001363811.1:c.575C>T | NP_001350740.1:p.Ser192Leu | |
| XM_011513435.2:c.1007C>T | XP_011511737.1:p.Ser336Leu | |
| XM_011513437.2:c.593C>T | XP_011511739.1:p.Ser198Leu | |
| NM_173660.5:c.1007C>T MANE Select | NP_775931.3:p.Ser336Leu | |
| NM_001164673.2:c.*228C>T | NP_001158145.1:n.*228C>T | |
| NM_001301071.2:c.1007C>T | NP_001288000.1:p.Ser336Leu | |
| NM_001363811.2:c.575C>T | NP_001350740.1:p.Ser192Leu | |
| NM_001256896.2:c.77C>T | NP_001243825.1:p.Ser26Leu |