Revel Score:
ENST00000343060
0.249
ENST00000355633
0.249
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095596G>T , CM000669.2:g.27095596G>T | GRCh38 |
| NC_000007.13:g.27135215G>T , CM000669.1:g.27135215G>T | GRCh37 |
| NC_000007.12:g.27101740G>T | NCBI36 |
| NG_011813.1:g.5411C>A | |
| NG_033087.1:g.4503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.317C>A MANE Select | ENSP00000494260.2:p.Ala106Glu | |
| ENST00000343060.4:c.317C>A | ENSP00000343246.4:p.Ala106Glu | |
| ENST00000355633.5:c.317C>A | ENSP00000347851.5:p.Ala106Glu | |
| NM_005522.4:c.317C>A | NP_005513.1:p.Ala106Glu | |
| NM_153620.2:c.317C>A | NP_705873.2:p.Ala106Glu | |
| NM_005522.5:c.317C>A MANE Select | NP_005513.2:p.Ala106Glu | |
| NM_153620.3:c.317C>A | NP_705873.3:p.Ala106Glu |