Revel Score:
ENST00000394321
0.270
ENST00000264079 (MANE Select)
0.584
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001174 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526852G>T , CM000681.2:g.7526852G>T | GRCh38 |
| NC_000019.9:g.7591738G>T , CM000681.1:g.7591738G>T | GRCh37 |
| NC_000019.8:g.7497738G>T | NCBI36 |
| NG_015806.1:g.9243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.497G>T MANE Select | ENSP00000264079.5:p.Cys166Phe | |
| ENST00000264079.10:c.497G>T | ENSP00000264079.5:p.Cys166Phe | |
| ENST00000394321.9:n.577G>T | ||
| ENST00000596008.1:n.459G>T | ||
| ENST00000598406.1:n.318G>T | ||
| ENST00000601003.1:c.497G>T | ENSP00000469074.1:p.Cys166Phe | |
| NM_020533.2:c.497G>T | NP_065394.1:p.Cys166Phe | |
| NM_020533.3:c.497G>T MANE Select | NP_065394.1:p.Cys166Phe |