Revel Score:
ENST00000457854
0.496
ENST00000222214 (MANE Select)
0.496
ENST00000421816
0.496
ENST00000422947
0.496
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Genomes Max Group AF
0.00001919 (AFR)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896949G>A , CM000681.2:g.12896949G>A | GRCh38 |
| NC_000019.9:g.13007763G>A , CM000681.1:g.13007763G>A | GRCh37 |
| NC_000019.8:g.12868763G>A | NCBI36 |
| NG_009292.1:g.10790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.892G>A MANE Select | ENSP00000222214.4:p.Ala298Thr | |
| ENST00000222214.9:c.892G>A | ENSP00000222214.4:p.Ala298Thr | |
| ENST00000421816.6:n.870G>A | ||
| ENST00000585420.5:n.1222G>A | ||
| ENST00000590530.5:c.*332G>A | ENSP00000468452.1:n.*332G>A | |
| ENST00000591043.1:n.928G>A | ||
| ENST00000591470.5:c.892G>A | ENSP00000466845.1:p.Ala298Thr | |
| NM_000159.3:c.892G>A | NP_000150.1:p.Ala298Thr | |
| NM_013976.3:c.892G>A | NP_039663.1:p.Ala298Thr | |
| NR_102316.1:n.1055G>A | ||
| NR_102317.1:n.1273G>A | ||
| XM_006722721.2:c.892G>A | XP_006722784.1:p.Ala298Thr | |
| XM_011527899.1:c.892G>A | XP_011526201.1:p.Ala298Thr | |
| XM_011527900.1:c.892G>A | XP_011526202.1:p.Ala298Thr | |
| XM_011527899.2:c.892G>A | XP_011526201.1:p.Ala298Thr | |
| XM_011527900.2:c.892G>A | XP_011526202.1:p.Ala298Thr | |
| XM_017026580.1:c.892G>A | XP_016882069.1:p.Ala298Thr | |
| NM_000159.4:c.892G>A MANE Select | NP_000150.1:p.Ala298Thr | |
| NM_013976.4:c.892G>A | NP_039663.1:p.Ala298Thr | |
| NM_013976.5:c.892G>A | NP_039663.1:p.Ala298Thr |