Revel Score:
ENST00000268070 (MANE Select)
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004472 (AFR)
Genomes Max Group AF
0.00007892 (AFR)
Exomes Max Group AF
0.0000027 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100341830G>A , CM000677.2:g.100341830G>A | GRCh38 |
| NC_000015.9:g.100882035G>A , CM000677.1:g.100882035G>A | GRCh37 |
| NC_000015.8:g.98699558G>A | NCBI36 |
| NG_016287.1:g.5149C>T | |
| NG_016287.2:g.5149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.70C>T MANE Select | ENSP00000268070.4:p.Pro24Ser | |
| ENST00000568565.2:c.70C>T | ENSP00000456161.2:p.Pro24Ser | |
| ENST00000268070.8:c.70C>T | ENSP00000268070.4:p.Pro24Ser | |
| ENST00000558960.1:c.70C>T | ENSP00000453604.1:p.Pro24Ser | |
| NM_139057.2:c.70C>T | NP_620688.2:p.Pro24Ser | |
| XM_005254872.2:c.70C>T | XP_005254929.1:p.Pro24Ser | |
| XM_011521312.1:c.70C>T | XP_011519614.1:p.Pro24Ser | |
| NM_139057.3:c.70C>T | NP_620688.2:p.Pro24Ser | |
| XM_005254872.3:c.70C>T | XP_005254929.1:p.Pro24Ser | |
| XM_011521312.2:c.70C>T | XP_011519614.1:p.Pro24Ser | |
| XM_017021973.2:c.70C>T | XP_016877462.1:p.Pro24Ser | |
| XM_017021974.1:c.70C>T | XP_016877463.1:p.Pro24Ser | |
| XM_017021975.1:c.70C>T | XP_016877464.1:p.Pro24Ser | |
| XM_017021976.1:c.-289C>T | XP_016877465.1:n.-289C>T | |
| XM_017021977.1:c.70C>T | XP_016877466.1:p.Pro24Ser | |
| XM_017021981.1:c.70C>T | XP_016877470.1:p.Pro24Ser | |
| XR_001751118.1:n.1092C>T | ||
| XR_001751119.1:n.1092C>T | ||
| XR_001751120.1:n.1092C>T | ||
| NM_139057.4:c.70C>T MANE Select | NP_620688.2:p.Pro24Ser |