Revel Score:
ENST00000374700 (MANE Select)
0.121
ENST00000260930
0.121
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25208509 (AFR)
Genomes Max Group AF
0.25221506 (AFR)
Exomes Max Group AF
0.24911812 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.200661607A>G , CM000664.2:g.200661607A>G | GRCh38 |
| NC_000002.11:g.201526330A>G , CM000664.1:g.201526330A>G | GRCh37 |
| NC_000002.10:g.201234575A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374700.7:c.3404A>G MANE Select | ENSP00000363832.2:p.Asn1135Ser | |
| ENST00000260930.10:c.62A>G | ENSP00000260930.6:p.Asn21Ser | |
| ENST00000374700.6:c.3404A>G | ENSP00000363832.2:p.Asn1135Ser | |
| ENST00000465297.5:n.2336A>G | ||
| ENST00000485106.5:n.2143A>G | ||
| NM_001159.3:c.3404A>G | NP_001150.3:p.Asn1135Ser | |
| XM_011511062.1:c.3404A>G | XP_011509364.1:p.Asn1135Ser | |
| XR_922913.1:n.3561A>G | ||
| XM_017003946.1:c.3404A>G | XP_016859435.1:p.Asn1135Ser | |
| XM_017003947.2:c.3404A>G | XP_016859436.1:p.Asn1135Ser | |
| NM_001159.4:c.3404A>G MANE Select | NP_001150.3:p.Asn1135Ser |