Revel Score:
ENST00000371265
0.954
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999214G>A , CM000663.2:g.54999214G>A | GRCh38 |
| NC_000001.10:g.55464887G>A , CM000663.1:g.55464887G>A | GRCh37 |
| NC_000001.9:g.55237475G>A | NCBI36 |
| NG_008965.1:g.5271G>A | |
| NG_008965.2:g.5282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.28G>A MANE Select | ENSP00000498282.1:p.Gly10Ser | |
| ENST00000371265.4:c.28G>A | ENSP00000360312.4:p.Gly10Ser | |
| NM_057176.2:c.28G>A | NP_476517.1:p.Gly10Ser | |
| NM_057176.3:c.28G>A MANE Select | NP_476517.1:p.Gly10Ser |