Revel Score:
ENST00000377084
0.226
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012748 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00013329 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83879757C>T , CM000675.2:g.83879757C>T | GRCh38 |
| NC_000013.10:g.84453892C>T , CM000675.1:g.84453892C>T | GRCh37 |
| NC_000013.9:g.83351893C>T | NCBI36 |
| NG_016748.1:g.7637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674365.1:c.1751G>A MANE Select | ENSP00000501349.1:p.Arg584Lys | |
| ENST00000377084.3:c.1751G>A | ENSP00000366288.2:p.Arg584Lys | |
| NM_001281503.1:c.1751G>A | NP_001268432.1:p.Arg584Lys | |
| NM_052910.2:c.1751G>A | NP_443142.1:p.Arg584Lys | |
| NM_001281503.2:c.1751G>A MANE Select | NP_001268432.1:p.Arg584Lys |