Revel Score:
ENST00000292901
0.753
ENST00000380299
0.753
ENST00000429817
0.753
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234026A>C , CM000673.2:g.5234026A>C | GRCh38 |
| NC_000011.9:g.5255256A>C , CM000673.1:g.5255256A>C | GRCh37 |
| NC_000011.8:g.5211832A>C | NCBI36 |
| NG_000007.3:g.63590T>G | |
| NG_063112.2:g.14632T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.280T>G | ENSP00000494708.1:p.Cys94Gly | |
| ENST00000650601.1:c.280T>G MANE Select | ENSP00000497529.1:p.Cys94Gly | |
| ENST00000292901.7:c.280T>G | ENSP00000292901.3:p.Cys94Gly | |
| ENST00000380299.3:c.280T>G | ENSP00000369654.3:p.Cys94Gly | |
| ENST00000417377.1:c.92+316T>G | ENSP00000414741.1:n.92+316T>G | |
| ENST00000429817.1:c.280T>G | ENSP00000393810.1:p.Cys94Gly | |
| NM_000519.3:c.280T>G | NP_000510.1:p.Cys94Gly | |
| NM_000519.4:c.280T>G MANE Select | NP_000510.1:p.Cys94Gly |