Revel Score:
ENST00000222248 (MANE Select)
0.385
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17872596G>A , CM000681.2:g.17872596G>A | GRCh38 |
| NC_000019.9:g.17983405G>A , CM000681.1:g.17983405G>A | GRCh37 |
| NC_000019.8:g.17844405G>A | NCBI36 |
| NG_012930.1:g.5624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.277G>A MANE Select | ENSP00000222248.2:p.Gly93Ser | |
| ENST00000222248.3:c.277G>A | ENSP00000222248.2:p.Gly93Ser | |
| NM_000453.2:c.277G>A | NP_000444.1:p.Gly93Ser | |
| XM_011528192.1:c.277G>A | XP_011526494.1:p.Gly93Ser | |
| XM_011528193.1:c.10G>A | XP_011526495.1:p.Gly4Ser | |
| XM_011528192.2:c.277G>A | XP_011526494.1:p.Gly93Ser | |
| XM_011528193.3:c.10G>A | XP_011526495.1:p.Gly4Ser | |
| XM_017027158.1:c.10G>A | XP_016882647.1:p.Gly4Ser | |
| NM_000453.3:c.277G>A MANE Select | NP_000444.1:p.Gly93Ser |