ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000881 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000813 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10672856T>A , CM000680.2:g.10672856T>A | GRCh38 |
| NC_000018.9:g.10672853T>A , CM000680.1:g.10672853T>A | GRCh37 |
| NC_000018.8:g.10662853T>A | NCBI36 |
| NG_034005.1:g.480907A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.*1281A>T | ENSP00000372900.4:n.*1281A>T | |
| ENST00000685517.1:n.2922A>T | ||
| ENST00000691469.1:n.2077A>T | ||
| ENST00000693743.1:c.1375A>T | ENSP00000510331.1:n.1375A>T | |
| ENST00000674853.1:c.8179A>T MANE Select | ENSP00000501957.1:p.Ile2727Phe | |
| ENST00000302079.10:c.7651A>T | ENSP00000303316.6:p.Ile2551Phe | |
| ENST00000383408.6:c.7693A>T | ENSP00000372900.3:p.Ile2565Phe | |
| ENST00000503781.7:c.7840A>T | ENSP00000421377.3:p.Ile2614Phe | |
| ENST00000538948.5:c.1711A>T | ENSP00000443129.1:p.Ile571Phe | |
| ENST00000580640.5:c.7915A>T | ENSP00000463094.1:p.Ile2639Phe | |
| ENST00000581680.1:n.316A>T | ||
| ENST00000582913.5:c.8046A>T | ENSP00000462115.1:n.8046A>T | |
| NM_022068.3:c.7840A>T | NP_071351.2:p.Ile2614Phe | |
| XM_011525723.1:c.7972A>T | XP_011524025.1:p.Ile2658Phe | |
| XM_011525724.1:c.7915A>T | XP_011524026.1:p.Ile2639Phe | |
| XM_011525725.1:c.7882A>T | XP_011524027.1:p.Ile2628Phe | |
| XM_011525726.1:c.7789A>T | XP_011524028.1:p.Ile2597Phe | |
| XM_011525723.3:c.7972A>T | XP_011524025.1:p.Ile2658Phe | |
| XM_011525724.3:c.7915A>T | XP_011524026.1:p.Ile2639Phe | |
| XM_011525725.3:c.7882A>T | XP_011524027.1:p.Ile2628Phe | |
| XM_011525726.3:c.7789A>T | XP_011524028.1:p.Ile2597Phe | |
| XM_017025918.2:c.7933A>T | XP_016881407.1:p.Ile2645Phe | |
| NM_001378183.1:c.8179A>T MANE Select | NP_001365112.1:p.Ile2727Phe | |
| NM_022068.4:c.7840A>T | NP_071351.2:p.Ile2614Phe |