Revel Score:
ENST00000383202 (MANE Select)
0.055
ENST00000236698
0.055
ENST00000480733
0.055
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003753 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00003464 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136604322T>C , CM000665.2:g.136604322T>C | GRCh38 |
| NC_000003.11:g.136323164T>C , CM000665.1:g.136323164T>C | GRCh37 |
| NC_000003.10:g.137805854T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383202.7:c.284A>G MANE Select | ENSP00000372689.2:p.Lys95Arg | |
| ENST00000236698.9:c.284A>G | ENSP00000236698.5:p.Lys95Arg | |
| ENST00000383202.6:c.284A>G | ENSP00000372689.2:p.Lys95Arg | |
| ENST00000434713.6:c.-395A>G | ENSP00000404396.2:n.-395A>G | |
| ENST00000462818.1:n.152A>G | ||
| ENST00000480733.1:c.284A>G | ENSP00000420789.1:p.Lys95Arg | |
| ENST00000483235.5:c.284A>G | ENSP00000419093.1:p.Lys95Arg | |
| ENST00000487065.5:c.284A>G | ENSP00000418472.1:p.Lys95Arg | |
| ENST00000629124.2:c.284A>G | ENSP00000486745.1:p.Lys95Arg | |
| NM_005862.2:c.284A>G | NP_005853.2:p.Lys95Arg | |
| XM_011512329.1:c.-358A>G | XP_011510631.1:n.-358A>G | |
| XM_011512330.1:c.-31A>G | XP_011510632.1:n.-31A>G | |
| XM_011512331.1:c.-253A>G | XP_011510633.1:n.-253A>G | |
| XM_011512329.2:c.-358A>G | XP_011510631.1:n.-358A>G | |
| XM_011512331.2:c.-253A>G | XP_011510633.1:n.-253A>G | |
| XM_017005523.1:c.-31A>G | XP_016861012.1:n.-31A>G | |
| XM_017005524.2:c.-563A>G | XP_016861013.1:n.-563A>G | |
| XR_001739978.1:n.562A>G | ||
| NM_005862.3:c.284A>G MANE Select | NP_005853.2:p.Lys95Arg |