dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001479 (NFE)
Exomes Max Group AF
0.00001571 (NFE)
Revel Score:
ENST00000437994
0.136
ENST00000287097 (MANE Select)
0.136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73730573A>G , CM000668.2:g.73730573A>G | GRCh38 |
| NC_000006.11:g.74440296A>G , CM000668.1:g.74440296A>G | GRCh37 |
| NC_000006.10:g.74497017A>G | NCBI36 |
| NG_033971.1:g.39789A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287097.6:c.506A>G MANE Select | ENSP00000287097.4:p.Lys169Arg | |
| ENST00000649530.1:n.478A>G | ||
| ENST00000287097.5:c.506A>G | ENSP00000287097.4:p.Lys169Arg | |
| ENST00000422508.6:c.277-5810A>G | ENSP00000404475.2:n.277-5810A>G | |
| ENST00000437994.6:c.506A>G | ENSP00000388062.2:p.Lys169Arg | |
| NM_001159587.2:c.506A>G | NP_001153059.1:p.Lys169Arg | |
| NM_001159588.2:c.277-5810A>G | NP_001153060.1:n.277-5810A>G | |
| NM_133493.4:c.506A>G | NP_598000.2:p.Lys169Arg | |
| XM_005248659.2:c.506A>G | XP_005248716.1:p.Lys169Arg | |
| XM_011535473.1:c.467A>G | XP_011533775.1:p.Lys156Arg | |
| XM_011535474.1:c.-215A>G | XP_011533776.1:n.-215A>G | |
| NM_133493.5:c.506A>G MANE Select | NP_598000.2:p.Lys169Arg | |
| NM_001159587.3:c.506A>G | NP_001153059.1:p.Lys169Arg | |
| NM_001159588.3:c.277-5810A>G | NP_001153060.1:n.277-5810A>G |