Revel Score:
ENST00000398722
0.211
ENST00000536736
0.211
ENST00000335730
0.211
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00410184 (EAS)
Genomes Max Group AF
0.00076659 (EAS)
Exomes Max Group AF
0.00448733 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46569512T>C , CM000680.2:g.46569512T>C | GRCh38 |
| NC_000018.9:g.44149475T>C , CM000680.1:g.44149475T>C | GRCh37 |
| NC_000018.8:g.42403473T>C | NCBI36 |
| NG_016646.1:g.92522A>G | |
| NG_016646.2:g.92522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.2174A>G MANE Select | ENSP00000496347.1:p.Asn725Ser | |
| ENST00000335730.6:n.1487A>G | ||
| ENST00000441551.6:c.2174A>G | ENSP00000387621.2:p.Asn725Ser | |
| ENST00000536736.5:c.2174A>G | ENSP00000444586.1:p.Asn725Ser | |
| NM_144612.6:c.2174A>G | NP_653213.6:p.Asn725Ser | |
| XM_011525803.1:c.2174A>G | XP_011524105.1:p.Asn725Ser | |
| XM_011525804.1:c.335A>G | XP_011524106.1:p.Asn112Ser | |
| XM_011525804.2:c.335A>G | XP_011524106.1:p.Asn112Ser | |
| XM_017025548.1:c.2174A>G | XP_016881037.1:p.Asn725Ser | |
| XM_024451084.1:c.656A>G | XP_024306852.1:p.Asn219Ser | |
| NM_001384474.1:c.2174A>G MANE Select | NP_001371403.1:p.Asn725Ser | |
| NM_144612.7:c.2174A>G | NP_653213.6:p.Asn725Ser |