Revel Score:
ENST00000291582 (MANE Select)
0.277
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00146682 (EAS)
Genomes Max Group AF
0.00076712 (EAS)
Exomes Max Group AF
0.00147596 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287041C>T , CM000683.2:g.44287041C>T | GRCh38 |
| NC_000021.8:g.45706924C>T , CM000683.1:g.45706924C>T | GRCh37 |
| NC_000021.7:g.44531352C>T | NCBI36 |
| NG_009556.1:g.6162C>T , LRG_18:g.6162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.371C>T MANE Select | ENSP00000291582.5:p.Pro124Leu | |
| ENST00000291582.5:c.371C>T | ENSP00000291582.5:p.Pro124Leu | |
| ENST00000527919.5:n.532C>T | ||
| ENST00000530812.5:n.540C>T | ||
| NM_000383.3:c.371C>T | NP_000374.1:p.Pro124Leu | |
| XM_011529551.1:c.371C>T | XP_011527853.1:p.Pro124Leu | |
| NM_000383.4:c.371C>T MANE Select | NP_000374.1:p.Pro124Leu |