Revel Score:
ENST00000245912
0.046
ENST00000326176
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00578614 (EAS)
Genomes Max Group AF
0.00384274 (EAS)
Exomes Max Group AF
0.00587154 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6669975G>A , CM000681.2:g.6669975G>A | GRCh38 |
| NC_000019.9:g.6669986G>A , CM000681.1:g.6669986G>A | GRCh37 |
| NC_000019.8:g.6620986G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675206.1:c.95C>T MANE Select | ENSP00000502837.1:p.Ser32Leu | |
| ENST00000245912.7:c.95C>T | ENSP00000245912.3:p.Ser32Leu | |
| ENST00000599359.1:c.95C>T | ENSP00000469049.1:p.Ser32Leu | |
| NM_003807.3:c.95C>T | NP_003798.2:p.Ser32Leu | |
| NM_172014.2:c.95C>T | NP_742011.2:p.Ser32Leu | |
| XM_005259670.2:c.95C>T | XP_005259727.1:p.Ser32Leu | |
| XM_011528398.1:c.95C>T | XP_011526700.1:p.Ser32Leu | |
| XR_936212.1:n.609C>T | ||
| NM_003807.4:c.95C>T | NP_003798.2:p.Ser32Leu | |
| NM_172014.3:c.95C>T | NP_742011.2:p.Ser32Leu | |
| XM_017027417.1:c.95C>T | XP_016882906.1:p.Ser32Leu | |
| XM_017027418.1:c.95C>T | XP_016882907.1:p.Ser32Leu | |
| XR_001753777.1:n.621C>T | ||
| XR_936212.2:n.621C>T | ||
| NM_001376887.1:c.95C>T MANE Select | NP_001363816.1:p.Ser32Leu | |
| NM_003807.5:c.95C>T | NP_003798.2:p.Ser32Leu |