Revel Score:
ENST00000282091 (MANE Select)
0.319
ENST00000529816
0.319
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492804A>C , CM000673.2:g.13492804A>C | GRCh38 |
| NC_000011.9:g.13514351A>C , CM000673.1:g.13514351A>C | GRCh37 |
| NC_000011.8:g.13470927A>C | NCBI36 |
| NG_008962.1:g.8217T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.52T>G MANE Select | ENSP00000282091.1:p.Cys18Gly | |
| ENST00000282091.5:c.52T>G | ENSP00000282091.1:p.Cys18Gly | |
| ENST00000529816.1:c.52T>G | ENSP00000433208.1:p.Cys18Gly | |
| NM_000315.2:c.52T>G | NP_000306.1:p.Cys18Gly | |
| NM_000315.3:c.52T>G | NP_000306.1:p.Cys18Gly | |
| NM_001316352.1:c.148T>G | NP_001303281.1:p.Cys50Gly | |
| NM_000315.4:c.52T>G MANE Select | NP_000306.1:p.Cys18Gly | |
| NM_001316352.2:c.148T>G | NP_001303281.1:p.Cys50Gly |