Revel Score:
ENST00000380746
0.871
ENST00000321117 (MANE Select)
0.871
ENST00000264709
0.871
ENST00000402667
0.871
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25247713C>A , CM000664.2:g.25247713C>A | GRCh38 |
| NC_000002.11:g.25470582C>A , CM000664.1:g.25470582C>A | GRCh37 |
| NC_000002.10:g.25324086C>A | NCBI36 |
| NG_029465.2:g.99878G>T , LRG_459:g.99878G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683760.1:c.223G>T | ENSP00000507765.1:p.Gly75Trp | |
| ENST00000321117.10:c.892G>T MANE Select | ENSP00000324375.5:p.Gly298Trp | |
| ENST00000264709.7:c.892G>T | ENSP00000264709.3:p.Gly298Trp | |
| ENST00000321117.9:c.892G>T | ENSP00000324375.5:p.Gly298Trp | |
| ENST00000380746.8:c.325G>T | ENSP00000370122.4:p.Gly109Trp | |
| ENST00000380756.7:c.892G>T | ENSP00000370132.3:p.Gly298Trp | |
| ENST00000402667.1:c.223G>T | ENSP00000384237.1:p.Gly75Trp | |
| ENST00000470983.5:n.339G>T | ||
| ENST00000474807.5:n.187G>T | ||
| ENST00000496570.1:n.425G>T | ||
| NM_022552.4:c.892G>T , LRG_459t1:c.892G>T | NP_072046.2:p.Gly298Trp | |
| NM_153759.3:c.325G>T , LRG_459t2:c.325G>T | NP_715640.2:p.Gly109Trp | |
| NM_175629.2:c.892G>T , LRG_459t4:c.892G>T | NP_783328.1:p.Gly298Trp | |
| XM_005264175.3:c.892G>T | XP_005264232.1:p.Gly298Trp | |
| XM_005264177.3:c.223G>T | XP_005264234.1:p.Gly75Trp | |
| XM_006711957.2:c.892G>T | XP_006712020.1:p.Gly298Trp | |
| XM_006711958.2:c.448G>T | XP_006712021.1:p.Gly150Trp | |
| XM_011532662.1:c.745G>T | XP_011530964.1:p.Gly249Trp | |
| XM_011532663.1:c.727G>T | XP_011530965.1:p.Gly243Trp | |
| XM_011532664.1:c.892G>T | XP_011530966.1:p.Gly298Trp | |
| XM_011532665.1:c.436G>T | XP_011530967.1:p.Gly146Trp | |
| XM_011532666.1:c.364G>T | XP_011530968.1:p.Gly122Trp | |
| XM_011532667.1:c.223G>T | XP_011530969.1:p.Gly75Trp | |
| XM_011532668.1:c.892G>T | XP_011530970.1:p.Gly298Trp | |
| NM_001320893.1:c.436G>T | NP_001307822.1:p.Gly146Trp | |
| NR_135490.1:n.1230G>T | ||
| XM_005264175.5:c.892G>T | XP_005264232.1:p.Gly298Trp | |
| XM_005264177.4:c.223G>T | XP_005264234.1:p.Gly75Trp | |
| XM_011532662.2:c.745G>T | XP_011530964.1:p.Gly249Trp | |
| XM_011532663.2:c.727G>T | XP_011530965.1:p.Gly243Trp | |
| XM_011532664.2:c.892G>T | XP_011530966.1:p.Gly298Trp | |
| XM_011532666.2:c.364G>T | XP_011530968.1:p.Gly122Trp | |
| XM_011532667.3:c.223G>T | XP_011530969.1:p.Gly75Trp | |
| XM_017003526.1:c.892G>T | XP_016859015.1:p.Gly298Trp | |
| XM_017003527.1:c.223G>T | XP_016859016.1:p.Gly75Trp | |
| XR_001738657.1:n.1169G>T | ||
| NM_001375819.1:c.223G>T | NP_001362748.1:p.Gly75Trp | |
| NR_135490.2:n.1123G>T | ||
| NM_022552.5:c.892G>T MANE Select | NP_072046.2:p.Gly298Trp |