Revel Score:
ENST00000204679 (MANE Select)
0.610
ENST00000529110
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001906 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00001648 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1352123C>A , CM000678.2:g.1352123C>A | GRCh38 |
| NC_000016.9:g.1402124C>A , CM000678.1:g.1402124C>A | GRCh37 |
| NC_000016.8:g.1342125C>A | NCBI36 |
| NG_016985.1:g.5225C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.94C>A | ||
| ENST00000529110.2:c.158C>A | ENSP00000435349.2:p.Ala53Glu | |
| ENST00000529957.6:n.53C>A | ||
| ENST00000683366.1:c.74C>A | ENSP00000507283.1:p.Ala25Glu | |
| ENST00000683887.1:c.74C>A | ENSP00000506886.1:p.Ala25Glu | |
| ENST00000684126.1:n.53C>A | ||
| ENST00000204679.9:c.74C>A MANE Select | ENSP00000204679.4:p.Ala25Glu | |
| ENST00000204679.8:c.74C>A | ENSP00000204679.4:p.Ala25Glu | |
| ENST00000526820.5:c.74C>A | ENSP00000434413.1:p.Ala25Glu | |
| ENST00000527137.2:c.74C>A | ENSP00000480060.1:p.Ala25Glu | |
| ENST00000527168.5:n.86C>A | ||
| ENST00000527876.5:c.74C>A | ENSP00000460728.1:p.Ala25Glu | |
| ENST00000529110.1:c.141C>A | ||
| ENST00000529957.5:n.94C>A | ||
| ENST00000534197.5:n.92C>A | ||
| NM_032520.4:c.74C>A | NP_115909.1:p.Ala25Glu | |
| XM_017023782.1:c.74C>A | XP_016879271.1:p.Ala25Glu | |
| NM_032520.5:c.74C>A MANE Select | NP_115909.1:p.Ala25Glu |