Revel Score:
ENST00000300527 (MANE Select)
0.959
ENST00000357838
0.959
ENST00000310645
0.959
ENST00000409416
0.959
ENST00000397763 (MANE Plus Clinical)
0.959
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001053 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000878 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46119806G>A , CM000683.2:g.46119806G>A | GRCh38 |
| NC_000021.8:g.47539720G>A , CM000683.1:g.47539720G>A | GRCh37 |
| NC_000021.7:g.46364148G>A | NCBI36 |
| NG_008675.1:g.26688G>A , LRG_476:g.26688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1288G>A MANE Plus Clinical | ENSP00000380870.1:p.Gly430Ser | |
| ENST00000300527.9:c.1288G>A MANE Select | ENSP00000300527.4:p.Gly430Ser | |
| ENST00000409416.6:c.1288G>A | ENSP00000387115.1:p.Gly430Ser | |
| ENST00000300527.8:c.1288G>A | ENSP00000300527.4:p.Gly430Ser | |
| ENST00000310645.9:c.1288G>A | ENSP00000312529.5:p.Gly430Ser | |
| ENST00000397763.5:c.1288G>A | ENSP00000380870.1:p.Gly430Ser | |
| ENST00000409416.5:c.1288G>A | ENSP00000387115.1:p.Gly430Ser | |
| NM_001849.3:c.1288G>A , LRG_476t1:c.1288G>A | NP_001840.3:p.Gly430Ser | |
| NM_058174.2:c.1288G>A | NP_478054.2:p.Gly430Ser | |
| NM_058175.2:c.1288G>A | NP_478055.2:p.Gly430Ser | |
| XM_011529451.1:c.1288G>A | XP_011527753.1:p.Gly430Ser | |
| XM_011529452.1:c.1288G>A | XP_011527754.1:p.Gly430Ser | |
| XR_937438.1:n.1411G>A | ||
| XR_937439.1:n.1411G>A | ||
| XR_937438.2:n.1418G>A | ||
| XR_937439.2:n.1418G>A | ||
| NM_001849.4:c.1288G>A MANE Select | NP_001840.3:p.Gly430Ser | |
| NM_058174.3:c.1288G>A MANE Plus Clinical | NP_478054.2:p.Gly430Ser | |
| NM_058175.3:c.1288G>A | NP_478055.2:p.Gly430Ser |