Revel Score:
ENST00000269701 (MANE Select)
0.177
ENST00000537303
0.177
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15362146G>C , CM000681.2:g.15362146G>C | GRCh38 |
| NC_000019.9:g.15472957G>C , CM000681.1:g.15472957G>C | GRCh37 |
| NC_000019.8:g.15333957G>C | NCBI36 |
| NG_046946.1:g.22683C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269701.7:c.1266C>G MANE Select | ENSP00000269701.1:p.Ser422Arg | |
| ENST00000598597.7:c.*329C>G | ENSP00000469908.3:n.*329C>G | |
| ENST00000599883.2:c.*329C>G | ENSP00000468902.2:n.*329C>G | |
| ENST00000679798.1:n.1562C>G | ||
| ENST00000680199.1:n.342C>G | ||
| ENST00000680245.1:c.1227C>G | ENSP00000504982.1:p.Ser409Arg | |
| ENST00000680336.1:n.1983C>G | ||
| ENST00000680461.1:c.*584C>G | ENSP00000506081.1:n.*584C>G | |
| ENST00000681018.1:n.1868C>G | ||
| ENST00000681812.1:c.*164C>G | ENSP00000506597.1:n.*164C>G | |
| ENST00000269701.6:c.1266C>G | ENSP00000269701.1:p.Ser422Arg | |
| ENST00000537303.5:n.964C>G | ||
| ENST00000598597.6:c.864C>G | ||
| NM_005858.3:c.1266C>G | NP_005849.1:p.Ser422Arg | |
| XM_011527624.1:c.966C>G | XP_011525926.1:p.Ser322Arg | |
| XM_011527625.1:c.708C>G | XP_011525927.1:p.Ser236Arg | |
| XR_244062.3:n.1521C>G | ||
| XM_011527624.3:c.966C>G | XP_011525926.1:p.Ser322Arg | |
| XM_017026141.2:c.1044C>G | XP_016881630.1:p.Ser348Arg | |
| XM_024451313.1:c.516C>G | XP_024307081.1:p.Ser172Arg | |
| XR_001753582.1:n.1508C>G | ||
| NM_005858.4:c.1266C>G MANE Select | NP_005849.1:p.Ser422Arg |