Revel Score:
ENST00000304506 (MANE Select)
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81330366 (AFR)
Genomes Max Group AF
0.80978284 (AFR)
Exomes Max Group AF
0.81321304 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132660272A>G , CM000667.2:g.132660272A>G | GRCh38 |
| NC_000005.9:g.131995964A>G , CM000667.1:g.131995964A>G | GRCh37 |
| NC_000005.8:g.132023863A>G | NCBI36 |
| NG_012090.1:g.7100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304506.7:c.431A>G MANE Select | ENSP00000304915.3:p.Gln144Arg | |
| ENST00000459878.5:n.435A>G | ||
| ENST00000462480.1:n.1502A>G | ||
| ENST00000468334.5:n.804A>G | ||
| ENST00000487267.5:n.602A>G | ||
| ENST00000617259.2:c.389A>G | ENSP00000479835.1:p.Gln130Arg | |
| NM_002188.2:c.431A>G | NP_002179.2:p.Gln144Arg | |
| NM_001354991.1:c.236A>G | NP_001341920.1:p.Gln79Arg | |
| NM_001354992.1:c.236A>G | NP_001341921.1:p.Gln79Arg | |
| NM_001354993.1:c.236A>G | NP_001341922.1:p.Gln79Arg | |
| NM_002188.3:c.431A>G MANE Select | NP_002179.2:p.Gln144Arg | |
| NM_001354991.2:c.236A>G | NP_001341920.1:p.Gln79Arg | |
| NM_001354992.2:c.236A>G | NP_001341921.1:p.Gln79Arg | |
| NM_001354993.2:c.236A>G | NP_001341922.1:p.Gln79Arg |