Revel Score:
ENST00000326431
0.868
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46709165G>A , CM000665.2:g.46709165G>A | GRCh38 |
| NC_000003.11:g.46750655G>A , CM000665.1:g.46750655G>A | GRCh37 |
| NC_000003.10:g.46725659G>A | NCBI36 |
| NG_011628.1:g.12833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.251G>A MANE Select | ENSP00000494576.2:p.Arg84Gln | |
| ENST00000644830.1:c.92G>A | ENSP00000495111.1:p.Arg31Gln | |
| ENST00000651652.1:c.149G>A | ENSP00000498953.1:p.Arg50Gln | |
| ENST00000326431.3:c.251G>A | ENSP00000324775.3:p.Arg84Gln | |
| NM_147196.2:c.251G>A | NP_671729.2:p.Arg84Gln | |
| XM_006713097.2:c.92G>A | XP_006713160.1:p.Arg31Gln | |
| XM_011533574.1:c.92G>A | XP_011531876.1:p.Arg31Gln | |
| XM_006713097.4:c.92G>A | XP_006713160.1:p.Arg31Gln | |
| XM_024453446.1:c.92G>A | XP_024309214.1:p.Arg31Gln | |
| NM_001370524.1:c.92G>A | NP_001357453.1:p.Arg31Gln | |
| NM_001370525.1:c.92G>A | NP_001357454.1:p.Arg31Gln | |
| NM_147196.3:c.251G>A MANE Select | NP_671729.2:p.Arg84Gln |