Revel Score:
ENST00000261799 (MANE Select)
0.614
ENST00000544453
0.614
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150117796G>A , CM000667.2:g.150117796G>A | GRCh38 |
| NC_000005.9:g.149497359G>A , CM000667.1:g.149497359G>A | GRCh37 |
| NC_000005.8:g.149477552G>A | NCBI36 |
| NG_012303.1:g.577C>T | |
| NG_023367.1:g.43064C>T | |
| NG_012303.2:g.577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.9:c.2959C>T MANE Select | ENSP00000261799.4:p.Arg987Trp | |
| ENST00000261799.8:c.2959C>T | ENSP00000261799.4:p.Arg987Trp | |
| ENST00000520579.5:c.*2273C>T | ENSP00000430026.1:n.*2273C>T | |
| NM_002609.3:c.2959C>T | NP_002600.1:p.Arg987Trp | |
| XM_005268464.2:c.2767C>T | XP_005268521.1:p.Arg923Trp | |
| XM_011537658.1:c.2959C>T | XP_011535960.1:p.Arg987Trp | |
| XM_011537659.1:c.2959C>T | XP_011535961.1:p.Arg987Trp | |
| NM_001355016.1:c.2767C>T | NP_001341945.1:p.Arg923Trp | |
| NM_001355017.1:c.2476C>T | NP_001341946.1:p.Arg826Trp | |
| NM_002609.4:c.2959C>T MANE Select | NP_002600.1:p.Arg987Trp | |
| NM_001355016.2:c.2767C>T | NP_001341945.1:p.Arg923Trp | |
| NM_001355017.2:c.2476C>T | NP_001341946.1:p.Arg826Trp |