Revel Score:
ENST00000296589 (MANE Select)
0.775
ENST00000382102
0.775
ENST00000509381
0.775
ENST00000345083
0.775
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00008836 (EAS)
Exomes Max Group AF
0.00009928 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33982329C>T , CM000667.2:g.33982329C>T | GRCh38 |
| NC_000005.9:g.33982434C>T , CM000667.1:g.33982434C>T | GRCh37 |
| NC_000005.8:g.34018191C>T | NCBI36 |
| NG_011691.2:g.7347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.469G>A MANE Select | ENSP00000296589.4:p.Asp157Asn | |
| ENST00000296589.8:c.469G>A | ENSP00000296589.4:p.Asp157Asn | |
| ENST00000382102.7:c.469G>A | ENSP00000371534.3:p.Asp157Asn | |
| ENST00000505056.1:n.364+1870G>A | ||
| ENST00000509381.1:c.469G>A | ENSP00000421100.1:p.Asp157Asn | |
| ENST00000510600.1:c.37+1870G>A | ENSP00000424010.1:n.37+1870G>A | |
| NM_001012509.3:c.469G>A | NP_001012527.1:p.Asp157Asn | |
| NM_001297417.2:c.469G>A | NP_001284346.2:p.Asp157Asn | |
| NM_016180.4:c.469G>A | NP_057264.3:p.Asp157Asn | |
| XM_011514052.1:c.469G>A | XP_011512354.1:p.Asp157Asn | |
| XR_925620.1:n.1030G>A | ||
| NM_016180.5:c.469G>A MANE Select | NP_057264.4:p.Asp157Asn | |
| NM_001012509.4:c.469G>A | NP_001012527.2:p.Asp157Asn | |
| NM_001297417.3:c.469G>A | NP_001284346.2:p.Asp157Asn | |
| NM_001297417.4:c.469G>A | NP_001284346.2:p.Asp157Asn |