Revel Score:
ENST00000398454
0.209
ENST00000359874
0.209
ENST00000508733
0.209
ENST00000256084 (MANE Select)
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013781 (EAS)
Genomes Max Group AF
0.00006894 (EAS)
Exomes Max Group AF
0.00011882 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148091214C>G , CM000667.2:g.148091214C>G | GRCh38 |
| NC_000005.9:g.147470777C>G , CM000667.1:g.147470777C>G | GRCh37 |
| NC_000005.8:g.147450970C>G | NCBI36 |
| NG_009633.1:g.32243C>G , LRG_110:g.32243C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.261C>G | ||
| ENST00000698105.1:n.522C>G | ||
| ENST00000256084.8:c.652C>G MANE Select | ENSP00000256084.7:p.Arg218Gly | |
| ENST00000256084.7:c.652C>G | ENSP00000256084.7:p.Arg218Gly | |
| ENST00000359874.7:c.652C>G | ENSP00000352936.3:p.Arg218Gly | |
| ENST00000398454.5:c.652C>G | ENSP00000381472.1:p.Arg218Gly | |
| ENST00000476608.1:n.168C>G | ||
| ENST00000476697.7:c.*177C>G | ENSP00000427943.1:n.*177C>G | |
| ENST00000481286.5:n.98C>G | ||
| ENST00000507988.5:n.816C>G | ||
| ENST00000508733.5:c.595C>G | ENSP00000421519.1:p.Arg199Gly | |
| NM_001127698.1:c.652C>G | NP_001121170.1:p.Arg218Gly | |
| NM_001127699.1:c.652C>G | NP_001121171.1:p.Arg218Gly | |
| NM_006846.3:c.652C>G , LRG_110t1:c.652C>G | NP_006837.2:p.Arg218Gly | |
| XM_011537550.1:c.595C>G | XP_011535852.1:p.Arg199Gly | |
| XM_011537551.1:c.568C>G | XP_011535853.1:p.Arg190Gly | |
| XM_011537551.2:c.568C>G | XP_011535853.1:p.Arg190Gly | |
| NM_001127698.2:c.652C>G | NP_001121170.1:p.Arg218Gly | |
| NM_001127699.2:c.652C>G | NP_001121171.1:p.Arg218Gly | |
| NM_006846.4:c.652C>G MANE Select | NP_006837.2:p.Arg218Gly |