Revel Score:
ENST00000373365 (MANE Select)
0.062
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000139 (NFE)
Exomes Max Group AF
0.00001476 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682852T>A , CM000668.2:g.38682852T>A | GRCh38 |
| NC_000006.11:g.38650628T>A , CM000668.1:g.38650628T>A | GRCh37 |
| NC_000006.10:g.38758606T>A | NCBI36 |
| NG_012074.1:g.25325A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.332A>T MANE Select | ENSP00000362463.3:p.Glu111Val | |
| ENST00000373365.4:c.332A>T | ENSP00000362463.3:p.Glu111Val | |
| ENST00000470973.1:n.364A>T | ||
| NM_006708.2:c.332A>T | NP_006699.2:p.Glu111Val | |
| NM_006708.3:c.332A>T MANE Select | NP_006699.2:p.Glu111Val |