Revel Score:
ENST00000310396 (MANE Select)
0.038
ENST00000450913
0.038
ENST00000423795
0.038
ENST00000443817
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0225278 (EAS)
Genomes Max Group AF
0.01161881 (EAS)
Exomes Max Group AF
0.02380937 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121136045G>T , CM000669.2:g.121136045G>T | GRCh38 |
| NC_000007.13:g.120776099G>T , CM000669.1:g.120776099G>T | GRCh37 |
| NC_000007.12:g.120563335G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310396.10:c.1654G>T MANE Select | ENSP00000309772.5:p.Val552Phe | |
| ENST00000310396.9:c.1654G>T | ENSP00000309772.5:p.Val552Phe | |
| ENST00000423795.5:c.994G>T | ENSP00000415573.1:p.Val332Phe | |
| ENST00000443817.1:c.994G>T | ENSP00000391952.1:p.Val332Phe | |
| ENST00000450913.6:c.1654G>T | ENSP00000406122.2:p.Val552Phe | |
| NM_001105533.1:c.1654G>T | NP_001099003.1:p.Val552Phe | |
| NM_024913.4:c.1654G>T | NP_079189.4:p.Val552Phe | |
| XM_011516583.1:c.1654G>T | XP_011514885.1:p.Val552Phe | |
| XM_017012649.2:c.1654G>T | XP_016868138.1:p.Val552Phe | |
| XM_024446941.1:c.1141G>T | XP_024302709.1:p.Val381Phe | |
| NM_024913.5:c.1654G>T MANE Select | NP_079189.4:p.Val552Phe |