Revel Score:
ENST00000336232 (MANE Select)
0.274
ENST00000540631
0.274
ENST00000545207
0.274
ENST00000535878
0.274
ENST00000311438
0.274
ENST00000430500
0.274
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62996085G>A , CM000673.2:g.62996085G>A | GRCh38 |
| NC_000011.9:g.62763557G>A , CM000673.1:g.62763557G>A | GRCh37 |
| NC_000011.8:g.62520133G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.829C>T MANE Select | ENSP00000337335.2:p.Arg277Trp | |
| ENST00000311438.12:c.829C>T | ENSP00000311463.8:p.Arg277Trp | |
| ENST00000336232.6:c.829C>T | ENSP00000337335.2:p.Arg277Trp | |
| ENST00000430500.6:c.829C>T | ENSP00000398548.2:p.Arg277Trp | |
| ENST00000535878.5:c.460C>T | ENSP00000443368.1:p.Arg154Trp | |
| ENST00000539841.1:n.647C>T | ||
| ENST00000545207.5:c.556C>T | ENSP00000441658.1:p.Arg186Trp | |
| NM_001184732.1:c.829C>T | NP_001171661.1:p.Arg277Trp | |
| NM_001184733.1:c.556C>T | NP_001171662.1:p.Arg186Trp | |
| NM_001184736.1:c.460C>T | NP_001171665.1:p.Arg154Trp | |
| NM_004254.3:c.829C>T | NP_004245.2:p.Arg277Trp | |
| XM_011545364.1:c.460C>T | XP_011543666.1:p.Arg154Trp | |
| NM_004254.4:c.829C>T MANE Select | NP_004245.2:p.Arg277Trp | |
| NM_001184732.2:c.829C>T | NP_001171661.1:p.Arg277Trp | |
| NM_001184733.2:c.556C>T | NP_001171662.1:p.Arg186Trp | |
| NM_001184736.2:c.460C>T | NP_001171665.1:p.Arg154Trp |