Revel Score:
ENST00000522368
0.873
ENST00000251810 (MANE Select)
0.958
ENST00000535248
0.958
ENST00000519317
0.958
ENST00000395912
0.958
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005469 (NFE)
Genomes Max Group AF
0.00005844 (NFE)
Exomes Max Group AF
0.00005167 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102212833C>G , CM000670.2:g.102212833C>G | GRCh38 |
| NC_000008.10:g.103225061C>G , CM000670.1:g.103225061C>G | GRCh37 |
| NC_000008.9:g.103294237C>G | NCBI36 |
| NG_016617.1:g.31286G>C , LRG_788:g.31286G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.846G>C MANE Select | ENSP00000251810.3:p.Met282Ile | |
| ENST00000251810.7:c.846G>C | ENSP00000251810.3:p.Met282Ile | |
| ENST00000395910.6:n.233G>C | ||
| ENST00000395912.6:c.690G>C | ENSP00000379248.2:p.Met230Ile | |
| ENST00000519125.1:n.364G>C | ||
| ENST00000519317.5:c.210G>C | ENSP00000430641.1:p.Met70Ile | |
| ENST00000519962.5:c.49-4548G>C | ENSP00000429140.1:n.49-4548G>C | |
| ENST00000522368.5:c.1015G>C | ||
| ENST00000522394.1:c.179G>C | ENSP00000429578.1:n.179G>C | |
| ENST00000621845.1:c.684G>C | ENSP00000484318.1:p.Met228Ile | |
| NM_001172477.1:c.1062G>C , LRG_788t1:c.1062G>C | NP_001165948.1:p.Met354Ile | |
| NM_001172478.1:c.690G>C | NP_001165949.1:p.Met230Ile | |
| NM_015713.4:c.846G>C , LRG_788t2:c.846G>C | NP_056528.2:p.Met282Ile | |
| NM_001172478.2:c.690G>C | NP_001165949.1:p.Met230Ile | |
| NM_015713.5:c.846G>C MANE Select | NP_056528.2:p.Met282Ile |