Revel Score:
ENST00000234371 (MANE Select)
0.376
gnomAD v4:
Joint Max Group AF
0.00001816 (NFE)
Exomes Max Group AF
0.00001928 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.920542C>G , CM000681.2:g.920542C>G | GRCh38 |
| NC_000019.9:g.920542C>G , CM000681.1:g.920542C>G | GRCh37 |
| NC_000019.8:g.871542C>G | NCBI36 |
| NG_008277.1:g.8201C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234371.10:c.991C>G MANE Select | ENSP00000234371.3:p.Arg331Gly | |
| ENST00000234371.9:c.991C>G | ENSP00000234371.3:p.Arg331Gly | |
| ENST00000606939.2:c.758C>G | ENSP00000475639.1:n.758C>G | |
| NM_032551.4:c.991C>G | NP_115940.2:p.Arg331Gly | |
| XM_017027382.1:c.*77C>G | XP_016882871.1:n.*77C>G | |
| NM_032551.5:c.991C>G MANE Select | NP_115940.2:p.Arg331Gly |