Revel Score:
ENST00000218099 (MANE Select)
0.561
ENST00000394090
0.561
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139537090C>G , CM000685.2:g.139537090C>G | GRCh38 |
| NC_000023.10:g.138619249C>G , CM000685.1:g.138619249C>G | GRCh37 |
| NC_000023.9:g.138446915C>G | NCBI36 |
| NG_007994.1:g.11355C>G , LRG_556:g.11355C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.169C>G MANE Select | ENSP00000218099.2:p.Gln57Glu | |
| ENST00000218099.6:c.169C>G | ENSP00000218099.2:p.Gln57Glu | |
| ENST00000394090.2:c.169C>G | ENSP00000377650.2:p.Gln57Glu | |
| ENST00000479617.2:n.176C>G | ||
| NM_000133.3:c.169C>G , LRG_556t1:c.169C>G | NP_000124.1:p.Gln57Glu | |
| NM_001313913.1:c.169C>G | NP_001300842.1:p.Gln57Glu | |
| XM_005262397.3:c.169C>G | XP_005262454.1:p.Gln57Glu | |
| XM_005262397.4:c.169C>G | XP_005262454.1:p.Gln57Glu | |
| NM_000133.4:c.169C>G MANE Select | NP_000124.1:p.Gln57Glu | |
| NM_001313913.2:c.169C>G | NP_001300842.1:p.Gln57Glu |