Revel Score:
ENST00000372980 (MANE Select)
0.087
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160228C>T , CM000682.2:g.44160228C>T | GRCh38 |
| NC_000020.10:g.42788868C>T , CM000682.1:g.42788868C>T | GRCh37 |
| NC_000020.9:g.42222282C>T | NCBI36 |
| NG_031867.1:g.32351G>A , LRG_394:g.32351G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.559G>A MANE Select | ENSP00000362071.3:p.Gly187Ser | |
| ENST00000372980.3:c.559G>A | ENSP00000362071.3:p.Gly187Ser | |
| NM_020433.4:c.559G>A , LRG_394t1:c.559G>A | NP_065166.2:p.Gly187Ser | |
| XM_006723832.2:c.559G>A | XP_006723895.1:p.Gly187Ser | |
| NM_020433.5:c.559G>A MANE Select | NP_065166.2:p.Gly187Ser |