Revel Score:
ENST00000326431
0.774
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016591 (SAS)
Genomes Max Group AF
0.00007366 (SAS)
Exomes Max Group AF
0.00014586 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46701579A>G , CM000665.2:g.46701579A>G | GRCh38 |
| NC_000003.11:g.46743069A>G , CM000665.1:g.46743069A>G | GRCh37 |
| NC_000003.10:g.46718073A>G | NCBI36 |
| NG_011628.1:g.5247A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.92A>G MANE Select | ENSP00000494576.2:p.Glu31Gly | |
| ENST00000644830.1:c.-66-4211A>G | ENSP00000495111.1:n.-66-4211A>G | |
| ENST00000326431.3:c.92A>G | ENSP00000324775.3:p.Glu31Gly | |
| NM_147196.2:c.92A>G | NP_671729.2:p.Glu31Gly | |
| XM_006713097.2:c.-66-4211A>G | XP_006713160.1:n.-66-4211A>G | |
| XM_011533574.1:c.-66-4211A>G | XP_011531876.1:n.-66-4211A>G | |
| XM_006713097.4:c.-66-4211A>G | XP_006713160.1:n.-66-4211A>G | |
| XM_024453446.1:c.-66-4211A>G | XP_024309214.1:n.-66-4211A>G | |
| NM_001370524.1:c.-66-4211A>G | NP_001357453.1:n.-66-4211A>G | |
| NM_001370525.1:c.-66-4211A>G | NP_001357454.1:n.-66-4211A>G | |
| NM_147196.3:c.92A>G MANE Select | NP_671729.2:p.Glu31Gly |