Revel Score:
ENST00000351513 (MANE Select)
0.791
ENST00000521573
0.791
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004806 (EAS)
Exomes Max Group AF
0.0000547 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104466746C>A , CM000670.2:g.104466746C>A | GRCh38 |
| NC_000008.10:g.105478974C>A , CM000670.1:g.105478974C>A | GRCh37 |
| NC_000008.9:g.105548150C>A | NCBI36 |
| NG_008840.1:g.5304G>T | |
| NG_008840.2:g.5304G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.175G>T MANE Select | ENSP00000276651.2:p.Val59Phe | |
| ENST00000351513.6:c.175G>T | ENSP00000276651.2:p.Val59Phe | |
| ENST00000521573.2:c.175G>T | ENSP00000430246.2:p.Val59Phe | |
| NM_001385.2:c.175G>T | NP_001376.1:p.Val59Phe | |
| XM_005250818.2:c.175G>T | XP_005250875.1:p.Val59Phe | |
| XM_006716518.2:c.175G>T | XP_006716581.1:p.Val59Phe | |
| XM_011516903.1:c.175G>T | XP_011515205.1:p.Val59Phe | |
| XM_011516904.1:c.175G>T | XP_011515206.1:p.Val59Phe | |
| XR_928507.1:n.112+759C>A | ||
| XM_005250818.3:c.175G>T | XP_005250875.1:p.Val59Phe | |
| XM_006716518.3:c.175G>T | XP_006716581.1:p.Val59Phe | |
| XM_011516903.3:c.175G>T | XP_011515205.1:p.Val59Phe | |
| XM_017013167.2:c.175G>T | XP_016868656.1:p.Val59Phe | |
| XM_024447087.1:c.175G>T | XP_024302855.1:p.Val59Phe | |
| XR_001745489.1:n.329G>T | ||
| XR_001745490.2:n.329G>T | ||
| XR_928507.2:n.233+759C>A | ||
| NM_001385.3:c.175G>T MANE Select | NP_001376.1:p.Val59Phe |