Revel Score:
ENST00000455319
0.005
ENST00000331890 (MANE Select)
0.005
gnomAD v4:
Joint Max Group AF
0.00010899 (MID)
Exomes Max Group AF
0.00011969 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144358296T>G , CM000670.2:g.144358296T>G | GRCh38 |
| NC_000008.10:g.145581956T>G , CM000670.1:g.145581956T>G | GRCh37 |
| NC_000008.9:g.145552764T>G | NCBI36 |
| NG_032872.1:g.4740T>G | |
| NG_032872.2:g.4740T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331890.6:c.152A>C (FBXL6) MANE Select | ENSP00000330098.5:p.Glu51Ala | |
| ENST00000532815.2:c.-111+694T>G (SLC52A2) | ENSP00000501933.1:n.-111+694T>G | |
| ENST00000675292.1:c.-110-888T>G (SLC52A2) | ENSP00000502652.1:n.-110-888T>G | |
| ENST00000675888.1:c.-110-888T>G (SLC52A2) | ENSP00000502294.1:n.-110-888T>G | |
| ENST00000331890.5:c.152A>C (FBXL6) | ENSP00000330098.5:p.Glu51Ala | |
| ENST00000455319.6:c.152A>C (FBXL6) | ENSP00000403873.2:p.Glu51Ala | |
| ENST00000524541.5:c.-110-888T>G (SLC52A2) | ENSP00000434239.1:n.-110-888T>G | |
| ENST00000530142.5:n.978A>C (FBXL6) | ||
| ENST00000532815.1:n.399+694T>G (SLC52A2) | ||
| NM_012162.3:c.152A>C (FBXL6) | NP_036294.2:p.Glu51Ala | |
| NM_024555.5:c.152A>C (FBXL6) | NP_078831.4:p.Glu51Ala | |
| NM_012162.4:c.152A>C (FBXL6) MANE Select | NP_036294.2:p.Glu51Ala | |
| NM_024555.6:c.152A>C (FBXL6) | NP_078831.4:p.Glu51Ala |