Revel Score:
ENST00000233242 (MANE Select)
0.084
ENST00000535079
0.084
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21012439G>C , CM000664.2:g.21012439G>C | GRCh38 |
| NC_000002.11:g.21235311G>C , CM000664.1:g.21235311G>C | GRCh37 |
| NC_000002.10:g.21088816G>C | NCBI36 |
| NG_011793.1:g.36635C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*3735C>G | ENSP00000501110.2:n.*3735C>G | |
| ENST00000673739.1:c.4143C>G | ENSP00000501110.1:n.4143C>G | |
| ENST00000233242.5:c.4429C>G MANE Select | ENSP00000233242.1:p.Gln1477Glu | |
| ENST00000616098.4:c.4429C>G | ENSP00000477990.1:p.Gln1477Glu | |
| NM_000384.2:c.4429C>G | NP_000375.2:p.Gln1477Glu | |
| XM_011532809.1:c.4429C>G | XP_011531111.1:p.Gln1477Glu | |
| NM_000384.3:c.4429C>G MANE Select | NP_000375.3:p.Gln1477Glu |