Revel Score:
ENST00000261537 (MANE Select)
0.332
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040231 (AMR)
Genomes Max Group AF
0.00040266 (AMR)
Exomes Max Group AF
0.0003329 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21858593G>T , CM000680.2:g.21858593G>T | GRCh38 |
| NC_000018.9:g.19438554G>T , CM000680.1:g.19438554G>T | GRCh37 |
| NC_000018.8:g.17692552G>T | NCBI36 |
| NG_033272.2:g.158637G>T , LRG_759:g.158637G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695487.1:n.1156G>T | ||
| ENST00000261537.7:c.2827G>T MANE Select | ENSP00000261537.6:p.Val943Phe | |
| ENST00000261537.6:c.2827G>T | ENSP00000261537.6:p.Val943Phe | |
| ENST00000578646.5:n.2804G>T | ||
| NM_020774.3:c.2827G>T , LRG_759t1:c.2827G>T | NP_065825.1:p.Val943Phe | |
| XM_011526098.1:c.1357G>T | XP_011524400.1:p.Val453Phe | |
| XM_017025873.1:c.2311G>T | XP_016881362.1:p.Val771Phe | |
| NM_020774.4:c.2827G>T MANE Select | NP_065825.1:p.Val943Phe |