Revel Score:
ENST00000556406
0.007
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005793 (EAS)
Exomes Max Group AF
0.00006518 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88437903G>A , CM000676.2:g.88437903G>A | GRCh38 |
| NC_000014.8:g.88904247G>A , CM000676.1:g.88904247G>A | GRCh37 |
| NC_000014.7:g.87974000G>A | NCBI36 |
| NG_021183.1:g.57260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1281G>A MANE Select | ENSP00000377176.4:p.Ser427= | |
| ENST00000045347.11:c.1281G>A | ENSP00000045347.7:p.Ser427= | |
| ENST00000356583.9:c.1185G>A | ENSP00000348991.5:p.Ser395= | |
| ENST00000393545.8:c.1281G>A | ENSP00000377176.4:p.Ser427= | |
| ENST00000553303.1:n.711G>A | ||
| ENST00000553626.5:n.3060G>A | ||
| ENST00000554802.1:c.177G>A | ENSP00000451019.1:p.Ser59= | |
| ENST00000556406.5:c.254G>A | ||
| ENST00000556553.5:c.1185G>A | ENSP00000451128.1:p.Ser395= | |
| ENST00000556666.5:n.1828G>A | ||
| NM_001040428.3:c.1185G>A | NP_001035518.1:p.Ser395= | |
| NM_018418.4:c.1281G>A | NP_060888.2:p.Ser427= | |
| XM_005267851.1:c.1284G>A | XP_005267908.1:p.Ser428= | |
| XM_005267852.1:c.1188G>A | XP_005267909.1:p.Ser396= | |
| XM_005267854.1:c.1092G>A | XP_005267911.1:p.Ser364= | |
| XM_005267855.1:c.1092G>A | XP_005267912.1:p.Ser364= | |
| XM_006720204.1:c.1284G>A | XP_006720267.1:p.Ser428= | |
| XM_006720205.1:c.1284G>A | XP_006720268.1:p.Ser428= | |
| XM_011536951.1:c.1131G>A | XP_011535253.1:p.Ser377= | |
| XM_011536952.1:c.1113G>A | XP_011535254.1:p.Ser371= | |
| XM_011536953.1:c.966G>A | XP_011535255.1:p.Ser322= | |
| XM_005267852.2:c.1188G>A | XP_005267909.1:p.Ser396= | |
| XM_017021452.1:c.1128G>A | XP_016876941.1:p.Ser376= | |
| XM_017021453.1:c.1092G>A | XP_016876942.1:p.Ser364= | |
| XM_017021454.1:c.1089G>A | XP_016876943.1:p.Ser363= | |
| XM_017021455.1:c.1089G>A | XP_016876944.1:p.Ser363= | |
| XM_017021456.1:c.1089G>A | XP_016876945.1:p.Ser363= | |
| XM_017021457.1:c.963G>A | XP_016876946.1:p.Ser321= | |
| XM_024449660.1:c.1110G>A | XP_024305428.1:p.Ser370= | |
| NM_018418.5:c.1281G>A MANE Select | NP_060888.2:p.Ser427= | |
| NM_001040428.4:c.1185G>A | NP_001035518.1:p.Ser395= |