Revel Score:
ENST00000357836
0.919
ENST00000336751 (MANE Select)
0.919
ENST00000497365
0.919
ENST00000475797
0.919
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00052193 (NFE)
Genomes Max Group AF
0.00039202 (NFE)
Exomes Max Group AF
0.00052243 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018399C>A , CM000663.2:g.146018399C>A | GRCh38 |
| NC_000001.10:g.145416614G>T , CM000663.1:g.145416614G>T | GRCh37 |
| NC_000001.9:g.144127971G>T | NCBI36 |
| NG_011568.1:g.8424G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.959G>T MANE Select | ENSP00000337014.5:p.Gly320Val | |
| ENST00000636675.1:c.281G>T | ENSP00000490072.1:p.Gly94Val | |
| ENST00000336751.10:c.959G>T | ENSP00000337014.5:p.Gly320Val | |
| ENST00000357836.5:c.620G>T | ENSP00000350495.5:p.Gly207Val | |
| ENST00000475797.1:c.281G>T | ENSP00000425716.1:p.Gly94Val | |
| ENST00000497365.5:c.281G>T | ENSP00000421820.1:p.Gly94Val | |
| NM_001316767.1:c.281G>T | NP_001303696.1:p.Gly94Val | |
| NM_145277.4:c.620G>T | NP_660320.3:p.Gly207Val | |
| NM_202004.3:c.281G>T | NP_973733.1:p.Gly94Val | |
| NM_213652.3:c.281G>T | NP_998817.1:p.Gly94Val | |
| NM_213653.3:c.959G>T | NP_998818.1:p.Gly320Val | |
| XM_005272932.1:c.959G>T | XP_005272989.1:p.Gly320Val | |
| NM_001316767.2:c.281G>T | NP_001303696.1:p.Gly94Val | |
| NM_145277.5:c.620G>T | NP_660320.3:p.Gly207Val | |
| NM_202004.4:c.281G>T | NP_973733.1:p.Gly94Val | |
| NM_213652.4:c.281G>T | NP_998817.1:p.Gly94Val | |
| NM_001379352.1:c.959G>T | NP_001366281.1:p.Gly320Val | |
| NM_213653.4:c.959G>T MANE Select | NP_998818.1:p.Gly320Val |