Revel Score:
ENST00000317829
0.421
ENST00000542840
0.421
ENST00000317837
0.421
ENST00000433060 (MANE Select)
0.421
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94800278G>T , CM000673.2:g.94800278G>T | GRCh38 |
| NC_000011.9:g.94533444G>T , CM000673.1:g.94533444G>T | GRCh37 |
| NC_000011.8:g.94173092G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433060.3:c.1088G>T MANE Select | ENSP00000387739.2:p.Arg363Leu | |
| ENST00000317829.12:c.938G>T | ENSP00000320968.8:p.Arg313Leu | |
| ENST00000433060.2:c.1088G>T | ENSP00000387739.2:p.Arg363Leu | |
| NM_001301007.1:c.938G>T | NP_001287936.1:p.Arg313Leu | |
| NM_130847.2:c.1088G>T | NP_570899.1:p.Arg363Leu | |
| XM_005273798.3:c.1175G>T | XP_005273855.1:p.Arg392Leu | |
| XM_005273801.3:c.830G>T | XP_005273858.1:p.Arg277Leu | |
| XM_006718772.2:c.1175G>T | XP_006718835.1:p.Arg392Leu | |
| XM_011542626.1:c.1025G>T | XP_011540928.1:p.Arg342Leu | |
| XM_011542627.1:c.830G>T | XP_011540929.1:p.Arg277Leu | |
| XM_005273798.4:c.1175G>T | XP_005273855.1:p.Arg392Leu | |
| XM_005273801.4:c.830G>T | XP_005273858.1:p.Arg277Leu | |
| XM_006718772.3:c.1175G>T | XP_006718835.1:p.Arg392Leu | |
| XM_011542626.2:c.1025G>T | XP_011540928.1:p.Arg342Leu | |
| NM_130847.3:c.1088G>T MANE Select | NP_570899.1:p.Arg363Leu | |
| NM_001301007.2:c.938G>T | NP_001287936.1:p.Arg313Leu |