Revel Score:
ENST00000324071 (MANE Select)
0.288
ENST00000330446
0.288
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00483331 (NFE)
Genomes Max Group AF
0.00412625 (NFE)
Exomes Max Group AF
0.00485382 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41004377A>G , CM000681.2:g.41004377A>G | GRCh38 |
| NC_000019.9:g.41510282A>G , CM000681.1:g.41510282A>G | GRCh37 |
| NC_000019.8:g.46202122A>G | NCBI36 |
| NG_007929.1:g.18079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.415A>G MANE Select | ENSP00000324648.2:p.Lys139Glu | |
| ENST00000598834.2:c.317A>G | ||
| ENST00000324071.8:c.415A>G | ENSP00000324648.2:p.Lys139Glu | |
| ENST00000593831.1:c.187A>G | ENSP00000470582.1:p.Lys63Glu | |
| ENST00000598834.1:n.317A>G | ||
| NM_000767.4:c.415A>G | NP_000758.1:p.Lys139Glu | |
| XM_005258569.3:c.415A>G | XP_005258626.1:p.Lys139Glu | |
| XM_006723050.2:c.415A>G | XP_006723113.1:p.Lys139Glu | |
| XM_011526546.1:c.415A>G | XP_011524848.1:p.Lys139Glu | |
| XM_011526547.1:c.415A>G | XP_011524849.1:p.Lys139Glu | |
| XM_011526548.1:c.415A>G | XP_011524850.1:p.Lys139Glu | |
| XM_011526549.1:c.-145A>G | XP_011524851.1:n.-145A>G | |
| XM_011526550.1:c.295A>G | XP_011524852.1:p.Lys99Glu | |
| NM_000767.5:c.415A>G MANE Select | NP_000758.1:p.Lys139Glu |