Revel Score:
ENST00000293780
0.522
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899036C>A , CM000679.2:g.4899036C>A | GRCh38 |
| NC_000017.10:g.4802331C>A , CM000679.1:g.4802331C>A | GRCh37 |
| NC_000017.9:g.4743110C>A | NCBI36 |
| NG_008029.2:g.9040G>T | |
| NG_028005.1:g.70697C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1291G>T MANE Select | ENSP00000497829.1:p.Ala431Ser | |
| ENST00000649830.1:c.358G>T | ENSP00000496907.1:p.Ala120Ser | |
| ENST00000652550.1:n.1021G>T | ||
| ENST00000293780.4:c.1291G>T | ENSP00000293780.4:p.Ala431Ser | |
| ENST00000572438.1:n.977G>T | ||
| NM_000080.3:c.1291G>T | NP_000071.1:p.Ala431Ser | |
| NM_000080.4:c.1291G>T MANE Select | NP_000071.1:p.Ala431Ser | |
| XM_017024115.1:c.1255G>T | XP_016879604.1:p.Ala419Ser |