Revel Score:
ENST00000249598
0.439
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00331982 (AFR)
Genomes Max Group AF
0.00333731 (AFR)
Exomes Max Group AF
0.00298052 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325491C>T , CM000672.2:g.47325491C>T | GRCh38 |
| NC_000010.10:g.48413871G>A , CM000672.1:g.48413871G>A | GRCh37 |
| NC_000010.9:g.48033877G>A | NCBI36 |
| NG_033916.1:g.8002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.997C>T MANE Select | ENSP00000463051.1:p.Arg333Trp | |
| ENST00000581492.2:c.997C>T | ENSP00000463051.1:p.Arg333Trp | |
| NM_016204.2:c.997C>T | NP_057288.1:p.Arg333Trp | |
| XM_006717761.2:c.997C>T | XP_006717824.1:p.Arg333Trp | |
| NM_016204.3:c.997C>T | NP_057288.1:p.Arg333Trp | |
| NM_016204.4:c.997C>T MANE Select | NP_057288.1:p.Arg333Trp |