Revel Score:
ENST00000408974
0.570
ENST00000355667
0.570
ENST00000359692
0.570
ENST00000389253 (MANE Select)
0.570
ENST00000314646
0.570
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001968 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
Exomes Max Group AF
0.0000119 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10718250A>G , CM000681.2:g.10718250A>G | GRCh38 |
| NC_000019.9:g.10828926A>G , CM000681.1:g.10828926A>G | GRCh37 |
| NC_000019.8:g.10689926A>G | NCBI36 |
| NG_008792.1:g.5172A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.196A>G | ||
| ENST00000682524.1:n.196A>G | ||
| ENST00000683738.1:n.196A>G | ||
| ENST00000355667.11:c.8A>G | ENSP00000347890.6:p.Asn3Ser | |
| ENST00000389253.9:c.8A>G MANE Select | ENSP00000373905.4:p.Asn3Ser | |
| ENST00000355667.10:c.8A>G | ENSP00000347890.6:p.Asn3Ser | |
| ENST00000359692.10:c.8A>G | ENSP00000352721.6:p.Asn3Ser | |
| ENST00000389253.8:c.8A>G | ENSP00000373905.3:p.Asn3Ser | |
| ENST00000408974.8:c.8A>G | ENSP00000386192.3:p.Asn3Ser | |
| ENST00000585892.5:c.8A>G | ENSP00000468734.1:p.Asn3Ser | |
| NM_001005360.2:c.8A>G | NP_001005360.1:p.Asn3Ser | |
| NM_001005361.2:c.8A>G | NP_001005361.1:p.Asn3Ser | |
| NM_001005362.2:c.8A>G | NP_001005362.1:p.Asn3Ser | |
| NM_001190716.1:c.8A>G | NP_001177645.1:p.Asn3Ser | |
| NM_004945.3:c.8A>G | NP_004936.2:p.Asn3Ser | |
| NM_001005361.3:c.8A>G MANE Select | NP_001005361.1:p.Asn3Ser | |
| NM_001190716.2:c.8A>G | NP_001177645.1:p.Asn3Ser | |
| NM_001005360.3:c.8A>G | NP_001005360.1:p.Asn3Ser | |
| NM_001005362.3:c.8A>G | NP_001005362.1:p.Asn3Ser | |
| NM_004945.4:c.8A>G | NP_004936.2:p.Asn3Ser |