Revel Score:
ENST00000375445
0.169
ENST00000260210 (MANE Select)
0.169
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16982954 (AFR)
Genomes Max Group AF
0.16794404 (AFR)
Exomes Max Group AF
0.16988263 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116763146G>A , CM000673.2:g.116763146G>A | GRCh38 |
| NC_000011.9:g.116633862G>A , CM000673.1:g.116633862G>A | GRCh37 |
| NC_000011.8:g.116139072G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.443C>T MANE Select | ENSP00000260210.3:p.Pro148Leu | |
| ENST00000260210.4:c.443C>T | ENSP00000260210.3:p.Pro148Leu | |
| ENST00000375445.7:c.443C>T | ENSP00000364594.3:p.Pro148Leu | |
| NM_001159736.1:c.443C>T | NP_001153208.1:p.Pro148Leu | |
| NM_032725.3:c.443C>T | NP_116114.1:p.Pro148Leu | |
| XM_011543035.1:c.344C>T | XP_011541337.1:p.Pro115Leu | |
| XM_011543035.2:c.344C>T | XP_011541337.1:p.Pro115Leu | |
| NM_032725.4:c.443C>T MANE Select | NP_116114.1:p.Pro148Leu | |
| NM_001159736.2:c.443C>T | NP_001153208.1:p.Pro148Leu |