Revel Score:
ENST00000227348 (MANE Select)
0.046
ENST00000533709
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77098088 (MID)
Genomes Max Group AF
0.71805954 (NFE)
Exomes Max Group AF
0.76951037 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.122867553A>G , CM000673.2:g.122867553A>G | GRCh38 |
| NC_000011.9:g.122738261A>G , CM000673.1:g.122738261A>G | GRCh37 |
| NC_000011.8:g.122243471A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227348.9:c.962A>G MANE Select | ENSP00000227348.4:p.Lys321Arg | |
| ENST00000227348.8:c.962A>G | ENSP00000227348.4:p.Lys321Arg | |
| ENST00000533416.1:n.274A>G | ||
| ENST00000533709.1:c.365A>G | ENSP00000433728.1:p.Lys122Arg | |
| NM_001304782.1:c.365A>G | NP_001291711.1:p.Lys122Arg | |
| NM_019604.3:c.962A>G | NP_062550.2:p.Lys321Arg | |
| XM_011542900.1:c.809A>G | XP_011541202.1:p.Lys270Arg | |
| XM_011542900.2:c.809A>G | XP_011541202.1:p.Lys270Arg | |
| NM_019604.4:c.962A>G MANE Select | NP_062550.2:p.Lys321Arg | |
| NM_001304782.2:c.365A>G | NP_001291711.1:p.Lys122Arg |