Revel Score:
ENST00000400331 (MANE Select)
0.045
ENST00000332878
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24814223 (EAS)
Genomes Max Group AF
0.26563774 (EAS)
Exomes Max Group AF
0.24458228 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20161772G>C , CM000669.2:g.20161772G>C | GRCh38 |
| NC_000007.13:g.20201395G>C , CM000669.1:g.20201395G>C | GRCh37 |
| NC_000007.12:g.20167920G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.91C>G MANE Select | ENSP00000383185.3:p.Leu31Val | |
| ENST00000332878.8:c.91C>G | ENSP00000328410.4:p.Leu31Val | |
| ENST00000400331.9:c.91C>G | ENSP00000383185.3:p.Leu31Val | |
| ENST00000589011.1:c.91C>G | ENSP00000466864.1:p.Leu31Val | |
| NM_182762.3:c.91C>G | NP_877439.3:p.Leu31Val | |
| NM_182762.4:c.91C>G MANE Select | NP_877439.3:p.Leu31Val |