Revel Score:
ENST00000328273
0.696
ENST00000424889
0.696
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756396T>G , CM000678.2:g.30756396T>G | GRCh38 |
| NC_000016.9:g.30767717T>G , CM000678.1:g.30767717T>G | GRCh37 |
| NC_000016.8:g.30675218T>G | NCBI36 |
| NG_016616.1:g.13098T>G | |
| NG_016616.2:g.13098T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.677T>G MANE Select | ENSP00000455607.1:p.Leu226Arg | |
| ENST00000328273.11:c.689T>G | ENSP00000329968.7:p.Leu230Arg | |
| ENST00000424889.7:c.677T>G | ENSP00000388571.3:p.Leu226Arg | |
| ENST00000563588.5:c.677T>G | ENSP00000455607.1:p.Leu226Arg | |
| ENST00000563913.5:n.1010T>G | ||
| ENST00000564838.5:n.931-194T>G | ||
| ENST00000565897.5:c.677T>G | ENSP00000457359.1:p.Leu226Arg | |
| ENST00000565924.5:c.677T>G | ENSP00000455091.1:p.Leu226Arg | |
| ENST00000569684.1:n.1101T>G | ||
| NM_000294.2:c.677T>G | NP_000285.1:p.Leu226Arg | |
| NM_001172432.1:c.677T>G | NP_001165903.1:p.Leu226Arg | |
| NM_000294.3:c.677T>G MANE Select | NP_000285.1:p.Leu226Arg | |
| NM_001172432.2:c.677T>G | NP_001165903.1:p.Leu226Arg |