Revel Score:
ENST00000231368 (MANE Select)
0.098
ENST00000395770
0.098
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4001203 (EAS)
Genomes Max Group AF
0.41154145 (EAS)
Exomes Max Group AF
0.39699807 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.97015006G>A , CM000667.2:g.97015006G>A | GRCh38 |
| NC_000005.9:g.96350710G>A , CM000667.1:g.96350710G>A | GRCh37 |
| NC_000005.8:g.96376466G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231368.10:c.2287G>A MANE Select | ENSP00000231368.5:p.Ala763Thr | |
| ENST00000231368.9:c.2287G>A | ENSP00000231368.5:p.Ala763Thr | |
| ENST00000395770.3:c.2245G>A | ENSP00000379117.3:p.Ala749Thr | |
| NM_005575.2:c.2287G>A | NP_005566.2:p.Ala763Thr | |
| NM_175920.3:c.2245G>A | NP_787116.2:p.Ala749Thr | |
| XM_024446045.1:c.2287G>A | XP_024301813.1:p.Ala763Thr | |
| NM_005575.3:c.2287G>A MANE Select | NP_005566.2:p.Ala763Thr | |
| NM_175920.4:c.2245G>A | NP_787116.2:p.Ala749Thr |