Revel Score:
ENST00000343648
0.146
ENST00000345383
0.146
ENST00000346301
0.146
ENST00000338104
0.146
ENST00000354441
0.146
ENST00000380656 (MANE Select)
0.146
ENST00000556651
0.146
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00109044 (EAS)
Genomes Max Group AF
0.00038184 (EAS)
Exomes Max Group AF
0.00111961 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88824712G>A , CM000676.2:g.88824712G>A | GRCh38 |
| NC_000014.8:g.89291056G>A , CM000676.1:g.89291056G>A | GRCh37 |
| NC_000014.7:g.88360809G>A | NCBI36 |
| NG_008126.1:g.5079G>A | |
| NG_008126.2:g.5560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.5G>A MANE Select | ENSP00000370031.2:p.Ser2Asn | |
| ENST00000338104.10:c.5G>A | ENSP00000337653.6:p.Ser2Asn | |
| ENST00000345383.9:c.5G>A | ENSP00000339486.6:p.Ser2Asn | |
| ENST00000346301.8:c.5G>A | ENSP00000298324.6:p.Ser2Asn | |
| ENST00000354441.10:c.5G>A | ENSP00000346427.6:p.Ser2Asn | |
| ENST00000358622.9:c.-558G>A | ENSP00000351439.5:n.-558G>A | |
| ENST00000380656.6:c.5G>A | ENSP00000370031.2:p.Ser2Asn | |
| ENST00000536576.5:c.5G>A | ENSP00000445067.2:p.Ser2Asn | |
| ENST00000553718.1:c.5G>A | ENSP00000450905.1:p.Ser2Asn | |
| ENST00000555057.5:c.5G>A | ENSP00000450951.1:p.Ser2Asn | |
| ENST00000556077.5:c.5G>A | ENSP00000451034.1:p.Ser2Asn | |
| ENST00000556567.5:n.62G>A | ||
| ENST00000556651.5:c.5G>A | ENSP00000450993.1:p.Ser2Asn | |
| ENST00000614125.4:c.5G>A | ENSP00000482306.1:p.Ser2Asn | |
| ENST00000622513.4:c.5G>A | ENSP00000482721.1:p.Ser2Asn | |
| NM_001288781.1:c.5G>A | NP_001275710.1:p.Ser2Asn | |
| NM_001288782.1:c.-558G>A | NP_001275711.1:n.-558G>A | |
| NM_001288783.1:c.-653G>A | NP_001275712.1:n.-653G>A | |
| NM_144596.3:c.5G>A | NP_653197.2:p.Ser2Asn | |
| NM_198309.3:c.5G>A | NP_938051.1:p.Ser2Asn | |
| NM_198310.3:c.5G>A | NP_938052.1:p.Ser2Asn | |
| XM_006720035.1:c.5G>A | XP_006720098.1:p.Ser2Asn | |
| XM_006720037.2:c.5G>A | XP_006720100.1:p.Ser2Asn | |
| XM_011536432.1:c.5G>A | XP_011534734.1:p.Ser2Asn | |
| XM_011536433.1:c.5G>A | XP_011534735.1:p.Ser2Asn | |
| XM_011536434.1:c.5G>A | XP_011534736.1:p.Ser2Asn | |
| NM_001366535.1:c.5G>A | NP_001353464.1:p.Ser2Asn | |
| NM_001366536.1:c.5G>A | NP_001353465.1:p.Ser2Asn | |
| NR_159362.1:n.62G>A | ||
| XM_011536433.2:c.5G>A | XP_011534735.1:p.Ser2Asn | |
| XM_011536434.2:c.5G>A | XP_011534736.1:p.Ser2Asn | |
| NM_001366535.2:c.5G>A | NP_001353464.1:p.Ser2Asn | |
| NM_001366536.2:c.5G>A | NP_001353465.1:p.Ser2Asn | |
| NR_159362.2:n.62G>A | ||
| NM_144596.4:c.5G>A MANE Select | NP_653197.2:p.Ser2Asn |