Revel Score:
ENST00000304611 (MANE Select)
0.216
ENST00000244546
0.216
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040163 (AFR)
Genomes Max Group AF
0.00051886 (AFR)
Exomes Max Group AF
0.00016132 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42968308T>C , CM000668.2:g.42968308T>C | GRCh38 |
| NC_000006.11:g.42936046T>C , CM000668.1:g.42936046T>C | GRCh37 |
| NC_000006.10:g.43044024T>C | NCBI36 |
| NG_008370.1:g.15936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1670A>G MANE Select | ENSP00000303511.8:p.Asn557Ser | |
| ENST00000244546.4:c.1670A>G | ENSP00000244546.4:p.Asn557Ser | |
| ENST00000304611.12:c.1670A>G | ENSP00000303511.8:p.Asn557Ser | |
| NM_000287.3:c.1670A>G | NP_000278.3:p.Asn557Ser | |
| NM_001316313.1:c.1406A>G | NP_001303242.1:p.Asn469Ser | |
| NR_133009.1:n.1763A>G | ||
| XM_011514661.1:c.1586A>G | XP_011512963.1:p.Asn529Ser | |
| XR_926246.1:n.1651A>G | ||
| XM_011514661.2:c.1586A>G | XP_011512963.1:p.Asn529Ser | |
| XR_001743466.2:n.2632A>G | ||
| NM_000287.4:c.1670A>G MANE Select | NP_000278.3:p.Asn557Ser | |
| NM_001316313.2:c.1406A>G | NP_001303242.1:p.Asn469Ser | |
| NR_133009.2:n.1701A>G |