Revel Score:
ENST00000340482
0.074
ENST00000225275 (MANE Select)
0.074
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280457C>T , CM000679.2:g.58280457C>T | GRCh38 |
| NC_000017.10:g.56357818C>T , CM000679.1:g.56357818C>T | GRCh37 |
| NC_000017.9:g.53712817C>T | NCBI36 |
| NG_009629.1:g.5479G>A , LRG_84:g.5479G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.157G>A MANE Select | ENSP00000225275.3:p.Val53Ile | |
| ENST00000225275.3:c.157G>A | ENSP00000225275.3:p.Val53Ile | |
| ENST00000580005.1:n.86G>A | ||
| NM_000250.1:c.157G>A , LRG_84t1:c.157G>A | NP_000241.1:p.Val53Ile | |
| XM_011524821.1:c.343G>A | XP_011523123.1:p.Val115Ile | |
| XM_011524822.1:c.-38+148G>A | XP_011523124.1:n.-38+148G>A | |
| XM_011524823.1:c.343G>A | XP_011523125.1:p.Val115Ile | |
| NM_000250.2:c.157G>A MANE Select | NP_000241.1:p.Val53Ile |