Revel Score:
ENST00000366641 (MANE Select)
0.255
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04142163 (EAS)
Genomes Max Group AF
0.02790219 (EAS)
Exomes Max Group AF
0.04314594 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231421877G>C , CM000663.2:g.231421877G>C | GRCh38 |
| NC_000001.10:g.231557623G>C , CM000663.1:g.231557623G>C | GRCh37 |
| NC_000001.9:g.229624246G>C | NCBI36 |
| NG_015865.1:g.8168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366641.4:c.12C>G MANE Select | ENSP00000355601.3:p.Asp4Glu | |
| ENST00000653198.1:n.433+40595C>G | ||
| ENST00000653908.1:c.30+40561C>G | ENSP00000499669.1:n.30+40561C>G | |
| ENST00000662216.1:c.30+40561C>G | ENSP00000499467.1:n.30+40561C>G | |
| ENST00000366641.3:c.12C>G | ENSP00000355601.3:p.Asp4Glu | |
| NM_022051.2:c.12C>G | NP_071334.1:p.Asp4Glu | |
| XM_005273166.3:c.12C>G | XP_005273223.1:p.Asp4Glu | |
| XM_005273167.3:c.12C>G | XP_005273224.1:p.Asp4Glu | |
| XM_005273166.5:c.12C>G | XP_005273223.1:p.Asp4Glu | |
| XM_005273167.5:c.12C>G | XP_005273224.1:p.Asp4Glu | |
| XM_024447734.1:c.12C>G | XP_024303502.1:p.Asp4Glu | |
| NM_001377260.1:c.12C>G | NP_001364189.1:p.Asp4Glu | |
| NM_001377261.1:c.12C>G | NP_001364190.1:p.Asp4Glu | |
| NM_022051.3:c.12C>G MANE Select | NP_071334.1:p.Asp4Glu |