Revel Score:
ENST00000262367 (MANE Select)
0.476
ENST00000543883
0.476
ENST00000382070
0.476
ENST00000323508
0.476
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00058762 (MID)
Genomes Max Group AF
0.00040806 (NFE)
Exomes Max Group AF
0.00062912 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729247A>G , CM000678.2:g.3729247A>G | GRCh38 |
| NC_000016.9:g.3779248A>G , CM000678.1:g.3779248A>G | GRCh37 |
| NC_000016.8:g.3719249A>G | NCBI36 |
| NG_009873.1:g.155874T>C | |
| NG_009873.2:g.156467T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5800T>C MANE Select | ENSP00000262367.5:p.Ser1934Pro | |
| ENST00000262367.9:c.5800T>C | ENSP00000262367.5:p.Ser1934Pro | |
| ENST00000382070.7:c.5686T>C | ENSP00000371502.3:p.Ser1896Pro | |
| NM_001079846.1:c.5686T>C | NP_001073315.1:p.Ser1896Pro | |
| NM_004380.2:c.5800T>C | NP_004371.2:p.Ser1934Pro | |
| XM_005255124.3:c.5755T>C | XP_005255181.1:p.Ser1919Pro | |
| XM_005255125.3:c.5383T>C | XP_005255182.1:p.Ser1795Pro | |
| XM_006720848.2:c.5539T>C | XP_006720911.1:p.Ser1847Pro | |
| XM_011522380.1:c.5746T>C | XP_011520682.1:p.Ser1916Pro | |
| XM_011522381.1:c.5047T>C | XP_011520683.1:p.Ser1683Pro | |
| XM_005255124.4:c.5755T>C | XP_005255181.1:p.Ser1919Pro | |
| XM_005255125.4:c.5383T>C | XP_005255182.1:p.Ser1795Pro | |
| XM_006720848.3:c.5539T>C | XP_006720911.1:p.Ser1847Pro | |
| XM_011522381.2:c.5047T>C | XP_011520683.1:p.Ser1683Pro | |
| XM_017022944.1:c.5794T>C | XP_016878433.1:p.Ser1932Pro | |
| NM_004380.3:c.5800T>C MANE Select | NP_004371.2:p.Ser1934Pro |