Revel Score:
ENST00000366600 (MANE Select)
0.325
gnomAD v4:
Joint Max Group AF
0.00000125 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235458753C>A , CM000663.2:g.235458753C>A | GRCh38 |
| NC_000001.10:g.235622061C>A , CM000663.1:g.235622061C>A | GRCh37 |
| NC_000001.9:g.233688684C>A | NCBI36 |
| NG_033219.2:g.50729G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461994.2:n.198G>T | ||
| ENST00000366600.8:c.875G>T MANE Select | ENSP00000355559.3:p.Arg292Leu | |
| ENST00000477694.6:n.1263G>T | ||
| ENST00000675193.1:c.998G>T | ENSP00000502069.1:p.Arg333Leu | |
| ENST00000675555.1:c.653G>T | ENSP00000501896.1:p.Arg218Leu | |
| ENST00000676288.1:c.998G>T | ENSP00000502392.1:p.Arg333Leu | |
| ENST00000366600.7:c.875G>T | ENSP00000355559.3:p.Arg292Leu | |
| ENST00000462374.1:n.161-3069G>T | ||
| ENST00000477694.5:n.198G>T | ||
| NM_152490.4:c.875G>T | NP_689703.1:p.Arg292Leu | |
| XM_005273071.3:c.842-3069G>T | XP_005273128.1:n.842-3069G>T | |
| XM_006711749.2:c.875G>T | XP_006711812.1:p.Arg292Leu | |
| XM_011544096.1:c.875G>T | XP_011542398.1:p.Arg292Leu | |
| XM_011544097.1:c.763-3069G>T | XP_011542399.1:n.763-3069G>T | |
| XM_006711749.3:c.875G>T | XP_006711812.1:p.Arg292Leu | |
| XM_017000394.1:c.998G>T | XP_016855883.1:p.Arg333Leu | |
| XM_017000395.1:c.998G>T | XP_016855884.1:p.Arg333Leu | |
| XR_001736987.1:n.1130-3069G>T | ||
| XR_001736988.1:n.1084G>T | ||
| XR_001736989.1:n.1051-3069G>T | ||
| XR_001736990.1:n.1013-3069G>T | ||
| NM_152490.5:c.875G>T MANE Select | NP_689703.1:p.Arg292Leu |