Revel Score:
ENST00000354593
0.238
ENST00000336411
0.238
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00324759 (AFR)
Genomes Max Group AF
0.00318686 (AFR)
Exomes Max Group AF
0.00300769 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99762177G>A , CM000669.2:g.99762177G>A | GRCh38 |
| NC_000007.13:g.99359800G>A , CM000669.1:g.99359800G>A | GRCh37 |
| NC_000007.12:g.99197736G>A | NCBI36 |
| NG_008421.1:g.27009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1117C>T | ENSP00000337915.3:p.Leu373Phe | |
| ENST00000651162.1:n.552C>T | ||
| ENST00000651514.1:c.1117C>T MANE Select | ENSP00000498939.1:p.Leu373Phe | |
| ENST00000651783.1:c.658C>T | ENSP00000498924.1:p.Leu220Phe | |
| ENST00000652018.1:c.970C>T | ENSP00000498733.1:p.Leu324Phe | |
| ENST00000336411.6:c.1117C>T | ENSP00000337915.2:p.Leu373Phe | |
| ENST00000354593.6:c.667C>T | ENSP00000346607.2:p.Leu223Phe | |
| NM_001202855.2:c.1114C>T | NP_001189784.1:p.Leu372Phe | |
| NM_017460.5:c.1117C>T | NP_059488.2:p.Leu373Phe | |
| XM_011515841.1:c.1117C>T | XP_011514143.1:p.Leu373Phe | |
| XM_011515842.1:c.1114C>T | XP_011514144.1:p.Leu372Phe | |
| NM_017460.6:c.1117C>T MANE Select | NP_059488.2:p.Leu373Phe | |
| NM_001202855.3:c.1114C>T | NP_001189784.1:p.Leu372Phe |