Revel Score:
ENST00000372470 (MANE Select)
0.357
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013915 (NFE)
Genomes Max Group AF
0.00030411 (NFE)
Exomes Max Group AF
0.00012357 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352530G>T , CM000663.2:g.43352530G>T | GRCh38 |
| NC_000001.10:g.43818201G>T , CM000663.1:g.43818201G>T | GRCh37 |
| NC_000001.9:g.43590788G>T | NCBI36 |
| NG_007525.1:g.19727G>T , LRG_510:g.19727G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1666G>T MANE Select | ENSP00000361548.3:p.Val556Phe | |
| ENST00000413998.7:c.1645G>T | ENSP00000414004.3:p.Val549Phe | |
| ENST00000643351.1:c.324G>T | ||
| ENST00000372470.7:c.1666G>T | ENSP00000361548.3:p.Val556Phe | |
| NM_005373.2:c.1666G>T , LRG_510t1:c.1666G>T | NP_005364.1:p.Val556Phe | |
| XM_011541478.1:c.1645G>T | XP_011539780.1:p.Val549Phe | |
| XM_017001320.1:c.1837G>T | XP_016856809.1:p.Val613Phe | |
| NM_005373.3:c.1666G>T MANE Select | NP_005364.1:p.Val556Phe |