Revel Score:
ENST00000383036
0.209
ENST00000383037
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02449629 (MID)
Genomes Max Group AF
0.0116805 (AMR)
Exomes Max Group AF
0.02558043 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6868402C>T , CM000686.2:g.6868402C>T | GRCh38 |
| NC_000024.9:g.6736443C>T , CM000686.1:g.6736443C>T | GRCh37 |
| NC_000024.8:g.6796443C>T | NCBI36 |
| NG_008011.1:g.10626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651267.2:c.208G>A MANE Select | ENSP00000498344.1:p.Val70Met | |
| ENST00000215479.10:c.208G>A | ENSP00000215479.5:p.Val70Met | |
| ENST00000651267.1:c.208G>A | ENSP00000498344.1:p.Val70Met | |
| ENST00000215479.9:c.208G>A | ENSP00000215479.5:p.Val70Met | |
| ENST00000383036.1:c.250G>A | ENSP00000372505.1:p.Val84Met | |
| NM_001143.1:c.208G>A | NP_001134.1:p.Val70Met | |
| XM_011531472.1:c.250G>A | XP_011529774.1:p.Val84Met | |
| NM_001364814.1:c.250G>A | NP_001351743.1:p.Val84Met | |
| NM_001143.2:c.208G>A MANE Select | NP_001134.1:p.Val70Met |