Revel Score:
ENST00000379374 (MANE Select)
0.177
ENST00000537599
0.177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22038501C>G , CM000685.2:g.22038501C>G | GRCh38 |
| NC_000023.10:g.22056619C>G , CM000685.1:g.22056619C>G | GRCh37 |
| NC_000023.9:g.21966540C>G | NCBI36 |
| NG_007563.2:g.10699C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.577C>G | ||
| ENST00000683214.1:n.544+5378C>G | ||
| ENST00000684143.1:c.151C>G | ENSP00000508264.1:p.Gln51Glu | |
| ENST00000379374.5:c.151C>G MANE Select | ENSP00000368682.4:p.Gln51Glu | |
| ENST00000379374.4:c.151C>G | ENSP00000368682.4:p.Gln51Glu | |
| NM_000444.5:c.151C>G | NP_000435.3:p.Gln51Glu | |
| NM_001282754.1:c.151C>G | NP_001269683.1:p.Gln51Glu | |
| XM_011545535.1:c.151C>G | XP_011543837.1:p.Gln51Glu | |
| XM_024452390.1:c.-141C>G | XP_024308158.1:n.-141C>G | |
| XR_001755695.1:n.830C>G | ||
| NM_000444.6:c.151C>G MANE Select | NP_000435.3:p.Gln51Glu | |
| NM_001282754.2:c.151C>G | NP_001269683.1:p.Gln51Glu |