Revel Score:
ENST00000406386
0.106
ENST00000417174
0.106
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37723595C>G , CM000684.2:g.37723595C>G | GRCh38 |
| NC_000022.10:g.38119602C>G , CM000684.1:g.38119602C>G | GRCh37 |
| NC_000022.9:g.36449548C>G | NCBI36 |
| NG_012857.1:g.31608C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.1039C>G MANE Select | ENSP00000496394.1:p.Arg347Gly | |
| ENST00000344404.10:c.*522C>G | ENSP00000340312.6:n.*522C>G | |
| ENST00000406386.7:c.1039C>G | ENSP00000384312.3:p.Arg347Gly | |
| ENST00000455236.4:c.1996C>G | ENSP00000477208.1:n.1996C>G | |
| ENST00000492485.5:n.973C>G | ||
| NM_001039141.2:c.1039C>G | NP_001034230.1:p.Arg347Gly | |
| NM_001039141.3:c.1039C>G MANE Select | NP_001034230.1:p.Arg347Gly |