Revel Score:
ENST00000320393 (MANE Select)
0.901
ENST00000356489
0.901
ENST00000541767
0.901
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020698 (AMR)
Genomes Max Group AF
0.00040366 (AMR)
Exomes Max Group AF
0.00016014 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80201023G>A , CM000668.2:g.80201023G>A | GRCh38 |
| NC_000006.11:g.80910740G>A , CM000668.1:g.80910740G>A | GRCh37 |
| NC_000006.10:g.80967459G>A | NCBI36 |
| NG_009775.1:g.99397G>A | |
| NG_009775.2:g.99397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.832G>A MANE Select | ENSP00000318351.5:p.Gly278Ser | |
| ENST00000320393.8:c.832G>A | ENSP00000318351.5:p.Gly278Ser | |
| ENST00000356489.9:c.832G>A | ENSP00000348880.5:p.Gly278Ser | |
| NM_000056.3:c.832G>A | NP_000047.1:p.Gly278Ser | |
| NM_183050.2:c.832G>A | NP_898871.1:p.Gly278Ser | |
| XM_005248756.3:c.832G>A | XP_005248813.1:p.Gly278Ser | |
| XM_006715542.2:c.622G>A | XP_006715605.1:p.Gly208Ser | |
| XM_011536023.1:c.832G>A | XP_011534325.1:p.Gly278Ser | |
| XM_011536024.1:c.832G>A | XP_011534326.1:p.Gly278Ser | |
| XM_011536025.1:c.832G>A | XP_011534327.1:p.Gly278Ser | |
| XM_011536026.1:c.622G>A | XP_011534328.1:p.Gly208Ser | |
| NM_000056.4:c.832G>A | NP_000047.1:p.Gly278Ser | |
| NM_001318975.1:c.622G>A | NP_001305904.1:p.Gly208Ser | |
| NM_183050.3:c.832G>A | NP_898871.1:p.Gly278Ser | |
| NR_134945.1:n.1010G>A | ||
| XM_005248756.5:c.832G>A | XP_005248813.1:p.Gly278Ser | |
| XM_011536023.3:c.832G>A | XP_011534325.1:p.Gly278Ser | |
| XM_011536024.3:c.832G>A | XP_011534326.1:p.Gly278Ser | |
| XM_011536025.3:c.832G>A | XP_011534327.1:p.Gly278Ser | |
| XR_001743546.2:n.862G>A | ||
| XR_001743547.2:n.862G>A | ||
| XR_001743548.2:n.862G>A | ||
| XR_001743549.2:n.862G>A | ||
| XR_002956292.1:n.862G>A | ||
| NM_183050.4:c.832G>A MANE Select | NP_898871.1:p.Gly278Ser | |
| NR_134945.2:n.949G>A | ||
| NM_000056.5:c.832G>A | NP_000047.1:p.Gly278Ser |