Revel Score:
ENST00000225927 (MANE Select)
0.968
ENST00000377405
0.968
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000804 (NFE)
Exomes Max Group AF
0.00000811 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543955G>A , CM000679.2:g.42543955G>A | GRCh38 |
| NC_000017.10:g.40695973G>A , CM000679.1:g.40695973G>A | GRCh37 |
| NC_000017.9:g.37949499G>A | NCBI36 |
| NG_011552.1:g.13023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1949G>A MANE Select | ENSP00000225927.1:p.Gly650Glu | |
| ENST00000225927.6:c.1949G>A | ENSP00000225927.1:p.Gly650Glu | |
| ENST00000591587.1:c.1287G>A | ENSP00000467836.1:n.1287G>A | |
| NM_000263.3:c.1949G>A | NP_000254.2:p.Gly650Glu | |
| XM_006721920.2:c.1118G>A | XP_006721983.1:p.Gly373Glu | |
| XM_011524840.1:c.950G>A | XP_011523142.1:p.Gly317Glu | |
| XM_017024687.1:c.1118G>A | XP_016880176.1:p.Gly373Glu | |
| XM_024450771.1:c.2006G>A | XP_024306539.1:p.Gly669Glu | |
| XM_024450772.1:c.950G>A | XP_024306540.1:p.Gly317Glu | |
| NM_000263.4:c.1949G>A MANE Select | NP_000254.2:p.Gly650Glu |