Revel Score:
ENST00000372622 (MANE Select)
0.288
ENST00000449078
0.288
ENST00000415790
0.288
ENST00000435014
0.234
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45795358C>G , CM000682.2:g.45795358C>G | GRCh38 |
| NC_000020.10:g.44423997C>G , CM000682.1:g.44423997C>G | GRCh37 |
| NC_000020.9:g.43857404C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372622.8:c.287C>G MANE Select | ENSP00000361705.3:p.Ala96Gly | |
| ENST00000372622.7:c.287C>G | ENSP00000361705.3:p.Ala96Gly | |
| ENST00000415790.5:c.167C>G | ENSP00000392509.1:p.Ala56Gly | |
| ENST00000435014.1:c.67C>G | ||
| ENST00000449078.5:c.272C>G | ENSP00000395609.1:p.Ala91Gly | |
| ENST00000456939.5:c.223+1341C>G | ||
| NM_052951.2:c.287C>G | NP_443183.1:p.Ala96Gly | |
| XM_024451823.1:c.167C>G | XP_024307591.1:p.Ala56Gly | |
| NM_052951.3:c.287C>G MANE Select | NP_443183.1:p.Ala96Gly |