Revel Score:
ENST00000522368
0.263
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000932 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218892A>G , CM000670.2:g.102218892A>G | GRCh38 |
| NC_000008.10:g.103231120A>G , CM000670.1:g.103231120A>G | GRCh37 |
| NC_000008.9:g.103300296A>G | NCBI36 |
| NG_016617.1:g.25227T>C , LRG_788:g.25227T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.606T>C MANE Select | ENSP00000251810.3:p.Phe202= | |
| ENST00000251810.7:c.606T>C | ENSP00000251810.3:p.Phe202= | |
| ENST00000395912.6:c.450T>C | ENSP00000379248.2:p.Phe150= | |
| ENST00000519125.1:n.124T>C | ||
| ENST00000519317.5:c.49-4734T>C | ENSP00000430641.1:n.49-4734T>C | |
| ENST00000519962.5:c.49-10607T>C | ENSP00000429140.1:n.49-10607T>C | |
| ENST00000522368.5:c.775T>C | ||
| ENST00000522394.1:c.123-6003T>C | ENSP00000429578.1:n.123-6003T>C | |
| ENST00000621845.1:c.444T>C | ENSP00000484318.1:p.Phe148= | |
| NM_001172477.1:c.822T>C , LRG_788t1:c.822T>C | NP_001165948.1:p.Phe274= | |
| NM_001172478.1:c.450T>C | NP_001165949.1:p.Phe150= | |
| NM_015713.4:c.606T>C , LRG_788t2:c.606T>C | NP_056528.2:p.Phe202= | |
| NM_001172478.2:c.450T>C | NP_001165949.1:p.Phe150= | |
| NM_015713.5:c.606T>C MANE Select | NP_056528.2:p.Phe202= |