Revel Score:
ENST00000503569
0.186
ENST00000226760 (MANE Select)
0.186
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300657G>A , CM000666.2:g.6300657G>A | GRCh38 |
| NC_000004.11:g.6302384G>A , CM000666.1:g.6302384G>A | GRCh37 |
| NC_000004.10:g.6353285G>A | NCBI36 |
| NG_011700.1:g.35808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.898G>A | ENSP00000507852.1:p.Val300Met | |
| ENST00000683395.1:c.839G>A | ||
| ENST00000684087.1:c.862G>A | ENSP00000506978.1:p.Val288Met | |
| ENST00000506362.2:c.613G>A | ENSP00000424103.2:p.Val205Met | |
| ENST00000673642.1:c.661-140G>A | ENSP00000501242.1:n.661-140G>A | |
| ENST00000673991.1:c.898G>A | ENSP00000501033.1:p.Val300Met | |
| ENST00000226760.5:c.862G>A MANE Select | ENSP00000226760.1:p.Val288Met | |
| ENST00000503569.5:c.862G>A | ENSP00000423337.1:p.Val288Met | |
| ENST00000506362.1:c.495G>A | ||
| ENST00000507765.1:n.1047G>A | ||
| ENST00000513395.1:n.420G>A | ||
| NM_001145853.1:c.862G>A | NP_001139325.1:p.Val288Met | |
| NM_006005.3:c.862G>A MANE Select | NP_005996.2:p.Val288Met | |
| XM_017008586.1:c.871G>A | XP_016864075.1:p.Val291Met |