Revel Score:
ENST00000320580 (MANE Select)
0.256
ENST00000527380
0.256
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211249A>G , CM000673.2:g.66211249A>G | GRCh38 |
| NC_000011.9:g.65978720A>G , CM000673.1:g.65978720A>G | GRCh37 |
| NC_000011.8:g.65735296A>G | NCBI36 |
| NG_033900.1:g.145897A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.650A>G MANE Select | ENSP00000316454.4:p.Asn217Ser | |
| ENST00000320580.8:c.650A>G | ENSP00000316454.4:p.Asn217Ser | |
| ENST00000527224.1:n.774A>G | ||
| ENST00000527380.1:c.356A>G | ENSP00000432639.1:p.Asn119Ser | |
| NM_018026.3:c.650A>G | NP_060496.2:p.Asn217Ser | |
| XM_011545162.1:c.329A>G | XP_011543464.1:p.Asn110Ser | |
| XM_011545163.1:c.320A>G | XP_011543465.1:p.Asn107Ser | |
| XM_011545164.1:c.311A>G | XP_011543466.1:p.Asn104Ser | |
| XM_011545164.2:c.311A>G | XP_011543466.1:p.Asn104Ser | |
| XR_001747924.1:n.861A>G | ||
| NM_018026.4:c.650A>G MANE Select | NP_060496.2:p.Asn217Ser |