Revel Score:
ENST00000374338 (MANE Select)
0.245
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010202 (AMR)
Genomes Max Group AF
0.0000325 (AFR)
Exomes Max Group AF
0.00013743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25566928C>T , CM000663.2:g.25566928C>T | GRCh38 |
| NC_000001.10:g.25893419C>T , CM000663.1:g.25893419C>T | GRCh37 |
| NC_000001.9:g.25766006C>T | NCBI36 |
| NG_008932.1:g.28344C>T , LRG_276:g.28344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374338.5:c.863C>T MANE Select | ENSP00000363458.4:p.Ser288Leu | |
| ENST00000374338.4:c.863C>T | ENSP00000363458.4:p.Ser288Leu | |
| ENST00000470950.1:n.287C>T | ||
| ENST00000474283.1:n.271C>T | ||
| ENST00000484476.5:n.585C>T | ||
| ENST00000488127.1:n.2714C>T | ||
| NM_015627.2:c.863C>T , LRG_276t1:c.863C>T | NP_056442.2:p.Ser288Leu | |
| XM_006710560.2:c.782+1721C>T | XP_006710623.1:n.782+1721C>T | |
| XM_006710561.2:c.782+1721C>T | XP_006710624.1:n.782+1721C>T | |
| XM_011541209.1:c.860C>T | XP_011539511.1:p.Ser287Leu | |
| XM_011541211.1:c.779+1721C>T | XP_011539513.1:n.779+1721C>T | |
| XM_011541212.1:c.779+1721C>T | XP_011539514.1:n.779+1721C>T | |
| XR_946602.1:n.901+1721C>T | ||
| XM_006710559.4:c.*1512C>T | XP_006710622.1:n.*1512C>T | |
| XM_006710560.4:c.782+1721C>T | XP_006710623.1:n.782+1721C>T | |
| XM_006710561.4:c.782+1721C>T | XP_006710624.1:n.782+1721C>T | |
| XM_011541209.3:c.860C>T | XP_011539511.1:p.Ser287Leu | |
| XM_011541210.3:c.*1512C>T | XP_011539512.1:n.*1512C>T | |
| XM_011541211.3:c.779+1721C>T | XP_011539513.1:n.779+1721C>T | |
| XM_011541212.3:c.779+1721C>T | XP_011539514.1:n.779+1721C>T | |
| XM_017000994.2:c.782C>T | XP_016856483.1:p.Ser261Leu | |
| XM_017000995.2:c.459+9661C>T | XP_016856484.1:n.459+9661C>T | |
| XM_024446315.1:c.728C>T | XP_024302083.1:p.Ser243Leu | |
| XR_001737112.2:n.852+1721C>T | ||
| XR_001737113.2:n.1043C>T | ||
| XR_002956258.1:n.1903C>T | ||
| XR_426598.4:n.1046C>T | ||
| XR_946602.3:n.852+1721C>T | ||
| XR_946603.3:n.2331C>T | ||
| NM_015627.3:c.863C>T MANE Select | NP_056442.2:p.Ser288Leu |