Revel Score:
ENST00000264895
0.138
ENST00000512123 (MANE Select)
0.172
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00498295 (EAS)
Genomes Max Group AF
0.00271298 (EAS)
Exomes Max Group AF
0.00513286 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78482481G>A , CM000666.2:g.78482481G>A | GRCh38 |
| NC_000004.11:g.79403635G>A , CM000666.1:g.79403635G>A | GRCh37 |
| NC_000004.10:g.79622659G>A | NCBI36 |
| NG_015812.1:g.429912G>A | |
| NG_015812.2:g.429912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.8698G>A | ENSP00000508201.1:p.Glu2900Lys | |
| ENST00000512123.4:c.8698G>A MANE Select | ENSP00000422834.2:p.Glu2900Lys | |
| ENST00000512123.3:c.8698G>A | ENSP00000422834.2:p.Glu2900Lys | |
| NM_025074.6:c.8698G>A | NP_079350.5:p.Glu2900Lys | |
| XM_006714314.1:c.8692G>A | XP_006714377.1:p.Glu2898Lys | |
| XM_006714316.1:c.8470G>A | XP_006714379.1:p.Glu2824Lys | |
| XM_011532270.1:c.6397G>A | XP_011530572.1:p.Glu2133Lys | |
| XM_011532271.1:c.3586G>A | XP_011530573.1:p.Glu1196Lys | |
| XM_006714316.3:c.8470G>A | XP_006714379.1:p.Glu2824Lys | |
| NM_025074.7:c.8698G>A MANE Select | NP_079350.5:p.Glu2900Lys |