Revel Score:
ENST00000369951 (MANE Select)
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001012 (NFE)
Exomes Max Group AF
0.0000097 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156369A>G , CM000685.2:g.154156369A>G | GRCh38 |
| NC_000023.10:g.153421844A>G , CM000685.1:g.153421844A>G | GRCh37 |
| NC_000023.9:g.153075038A>G | NCBI36 |
| NG_009105.2:g.17119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369951.9:c.820A>G MANE Select | ENSP00000358967.4:p.Ile274Val | |
| ENST00000369951.8:c.820A>G | ENSP00000358967.4:p.Ile274Val | |
| ENST00000442922.1:c.384+25A>G | ENSP00000402493.1:n.384+25A>G | |
| ENST00000463296.1:n.664A>G | ||
| NM_020061.5:c.820A>G | NP_064445.2:p.Ile274Val | |
| NM_020061.6:c.820A>G MANE Select | NP_064445.2:p.Ile274Val |