Revel Score:
ENST00000274576 (MANE Select)
0.575
ENST00000455880
0.575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151892356C>G , CM000667.2:g.151892356C>G | GRCh38 |
| NC_000005.9:g.151271917C>G , CM000667.1:g.151271917C>G | GRCh37 |
| NC_000005.8:g.151252110C>G | NCBI36 |
| NG_011764.1:g.37481G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.139G>C MANE Select | ENSP00000274576.5:p.Gly47Arg | |
| ENST00000274576.8:c.139G>C | ENSP00000274576.4:p.Gly47Arg | |
| ENST00000455880.2:c.139G>C | ENSP00000411593.2:p.Gly47Arg | |
| ENST00000462581.6:c.57-5568G>C | ENSP00000430595.1:n.57-5568G>C | |
| ENST00000471351.2:n.422G>C | ||
| NM_000171.3:c.139G>C | NP_000162.2:p.Gly47Arg | |
| NM_001146040.1:c.139G>C | NP_001139512.1:p.Gly47Arg | |
| NM_001292000.1:c.-65-5568G>C | NP_001278929.1:n.-65-5568G>C | |
| XM_005268412.2:c.139G>C | XP_005268469.1:p.Gly47Arg | |
| XR_002956230.1:n.3260C>G | ||
| NM_000171.4:c.139G>C MANE Select | NP_000162.2:p.Gly47Arg | |
| NM_001146040.2:c.139G>C | NP_001139512.1:p.Gly47Arg | |
| NM_001292000.2:c.-65-5568G>C | NP_001278929.1:n.-65-5568G>C |