Revel Score:
ENST00000225614
0.755
ENST00000437911
0.755
ENST00000375188
0.755
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003075 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002919 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75765043C>T , CM000679.2:g.75765043C>T | GRCh38 |
| NC_000017.10:g.73761124C>T , CM000679.1:g.73761124C>T | GRCh37 |
| NC_000017.9:g.71272719C>T | NCBI36 |
| NG_008079.1:g.5157G>A | |
| NG_008079.2:g.5157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.94G>A | ENSP00000468341.2:p.Val32Met | |
| ENST00000592997.6:c.94G>A | ENSP00000464765.2:p.Val32Met | |
| ENST00000588479.6:c.94G>A MANE Select | ENSP00000465930.1:p.Val32Met | |
| ENST00000225614.6:c.94G>A | ENSP00000225614.1:p.Val32Met | |
| ENST00000586244.1:c.94G>A | ENSP00000468288.1:p.Val32Met | |
| ENST00000588479.5:c.94G>A | ENSP00000465930.1:p.Val32Met | |
| ENST00000589030.1:n.91G>A | ||
| ENST00000592494.1:n.115G>A | ||
| NM_000154.1:c.94G>A | NP_000145.1:p.Val32Met | |
| NM_000154.2:c.94G>A MANE Select | NP_000145.1:p.Val32Met | |
| NM_001381985.1:c.94G>A | NP_001368914.1:p.Val32Met |