COSMIC:
COSM4128309 (not active)
Revel Score:
ENST00000356113
0.169
ENST00000414170
0.169
ENST00000299022 (MANE Select)
0.169
ENST00000433326
0.169
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86890728 (EAS)
Genomes Max Group AF
0.80928746 (EAS)
Exomes Max Group AF
0.87441992 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58545811A>G , CM000677.2:g.58545811A>G | GRCh38 |
| NC_000015.9:g.58838010A>G , CM000677.1:g.58838010A>G | GRCh37 |
| NC_000015.8:g.56625302A>G | NCBI36 |
| NG_011465.1:g.118836A>G | |
| NG_011465.2:g.118836A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.644A>G MANE Select | ENSP00000299022.5:p.Asn215Ser | |
| ENST00000299022.9:c.644A>G | ENSP00000299022.5:p.Asn215Ser | |
| ENST00000356113.10:c.644A>G | ENSP00000348425.6:p.Asn215Ser | |
| ENST00000414170.7:c.644A>G | ENSP00000395569.3:p.Asn215Ser | |
| ENST00000433326.2:c.461A>G | ENSP00000395002.2:p.Asn154Ser | |
| ENST00000559845.5:n.501A>G | ||
| ENST00000560664.1:n.408A>G | ||
| NM_000236.2:c.644A>G | NP_000227.2:p.Asn215Ser | |
| XM_005254372.1:c.644A>G | XP_005254429.1:p.Asn215Ser | |
| XM_005254374.3:c.581A>G | XP_005254431.1:p.Asn194Ser | |
| XM_006720502.2:c.503A>G | XP_006720565.1:p.Asn168Ser | |
| XM_011521551.1:c.644A>G | XP_011519853.1:p.Asn215Ser | |
| XM_005254374.4:c.680A>G | XP_005254431.2:p.Asn227Ser | |
| XM_006720502.4:c.503A>G | XP_006720565.1:p.Asn168Ser | |
| XM_017022176.1:c.680A>G | XP_016877665.1:p.Asn227Ser | |
| XM_024449916.1:c.644A>G | XP_024305684.1:p.Asn215Ser | |
| XM_024449917.1:c.644A>G | XP_024305685.1:p.Asn215Ser | |
| NM_000236.3:c.644A>G MANE Select | NP_000227.2:p.Asn215Ser |