Revel Score:
ENST00000317063
0.334
ENST00000455171
0.334
ENST00000262315 (MANE Select)
0.334
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000367 (SAS)
Genomes Max Group AF
0.0000729 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.791168A>G , CM000678.2:g.791168A>G | GRCh38 |
| NC_000016.9:g.841168A>G , CM000678.1:g.841168A>G | GRCh37 |
| NC_000016.8:g.781169A>G | NCBI36 |
| NG_047098.1:g.2220T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262315.14:c.902A>G MANE Select | ENSP00000262315.9:p.Asn301Ser | |
| ENST00000262315.13:c.902A>G | ENSP00000262315.9:p.Asn301Ser | |
| ENST00000317063.10:c.902A>G | ENSP00000313029.7:p.Asn301Ser | |
| ENST00000426047.1:c.588A>G | ||
| ENST00000440239.5:c.905A>G | ENSP00000399111.1:p.Asn302Ser | |
| ENST00000455171.6:c.986A>G | ENSP00000406252.2:p.Asn329Ser | |
| ENST00000464728.5:n.1199A>G | ||
| ENST00000471202.5:n.1616A>G | ||
| ENST00000491530.5:n.617A>G | ||
| ENST00000565787.1:n.32A>G | ||
| ENST00000567620.1:n.470A>G | ||
| ENST00000569270.5:c.222A>G | ||
| ENST00000631357.2:c.1487A>G | ENSP00000486314.1:p.Asn496Ser | |
| NM_022092.2:c.902A>G | NP_071375.1:p.Asn301Ser | |
| XM_005255470.1:c.554A>G | XP_005255527.1:p.Asn185Ser | |
| XM_005255471.2:c.986A>G | XP_005255528.1:p.Asn329Ser | |
| XM_005255472.1:c.-1108A>G | XP_005255529.1:n.-1108A>G | |
| XM_011522572.1:c.905A>G | XP_011520874.1:p.Asn302Ser | |
| XM_011522573.1:c.-255A>G | XP_011520875.1:n.-255A>G | |
| XM_005255471.3:c.986A>G | XP_005255528.1:p.Asn329Ser | |
| XM_017023532.1:c.839A>G | XP_016879021.1:p.Asn280Ser | |
| XM_017023533.1:c.905A>G | XP_016879022.1:p.Asn302Ser | |
| XM_017023534.1:c.554A>G | XP_016879023.1:p.Asn185Ser | |
| NM_022092.3:c.902A>G MANE Select | NP_071375.1:p.Asn301Ser |