Revel Score:
ENST00000440747
0.032
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003666 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00003717 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.780059C>G , CM000669.2:g.780059C>G | GRCh38 |
| NC_000007.13:g.819696C>G , CM000669.1:g.819696C>G | GRCh37 |
| NC_000007.12:g.786222C>G | NCBI36 |
| NG_033137.1:g.58359C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.2346C>G MANE Select | ENSP00000297440.6:p.Tyr782Ter | |
| ENST00000297440.10:c.2346C>G | ENSP00000297440.6:p.Tyr782Ter | |
| ENST00000403952.3:c.621C>G | ENSP00000384884.3:p.Tyr207Ter | |
| ENST00000440747.5:c.1750C>G | ||
| ENST00000461576.1:n.156C>G | ||
| NM_017802.3:c.2346C>G | NP_060272.3:p.Tyr782Ter | |
| NR_075098.1:n.2304C>G | ||
| XM_024446813.1:c.2239+4897C>G | XP_024302581.1:n.2239+4897C>G | |
| XM_024446814.1:c.1740C>G | XP_024302582.1:p.Tyr580Ter | |
| NM_017802.4:c.2346C>G MANE Select | NP_060272.3:p.Tyr782Ter | |
| NR_075098.2:n.2306C>G |