Revel Score:
ENST00000204679 (MANE Select)
0.426
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362689C>G , CM000678.2:g.1362689C>G | GRCh38 |
| NC_000016.9:g.1412690C>G , CM000678.1:g.1412690C>G | GRCh37 |
| NC_000016.8:g.1352691C>G | NCBI36 |
| NG_016985.1:g.15791C>G | |
| NG_033129.1:g.57016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.787C>G | ||
| ENST00000529110.2:c.772C>G | ENSP00000435349.2:p.Leu258Val | |
| ENST00000529957.6:n.746C>G | ||
| ENST00000683366.1:c.*420C>G | ENSP00000507283.1:n.*420C>G | |
| ENST00000683887.1:c.736C>G | ENSP00000506886.1:p.Leu246Val | |
| ENST00000684100.1:n.682C>G | ||
| ENST00000684126.1:n.822C>G | ||
| ENST00000684688.1:n.1313C>G | ||
| ENST00000204679.9:c.688C>G MANE Select | ENSP00000204679.4:p.Leu230Val | |
| ENST00000204679.8:c.688C>G | ENSP00000204679.4:p.Leu230Val | |
| ENST00000527076.1:n.1911C>G | ||
| ENST00000527168.5:n.855C>G | ||
| ENST00000529957.5:n.787C>G | ||
| NM_032520.4:c.688C>G | NP_115909.1:p.Leu230Val | |
| XM_017023782.1:c.736C>G | XP_016879271.1:p.Leu246Val | |
| XM_017023783.1:c.328C>G | XP_016879272.1:p.Leu110Val | |
| NM_032520.5:c.688C>G MANE Select | NP_115909.1:p.Leu230Val |