gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39026823 (AFR)
Genomes Max Group AF
0.39026823 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65430991A>G , CM000663.2:g.65430991A>G | GRCh38 |
| NC_000001.10:g.65896674A>G , CM000663.1:g.65896674A>G | GRCh37 |
| NC_000001.9:g.65669262A>G | NCBI36 |
| NG_015831.2:g.15427A>G , LRG_283:g.15427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.-21+5613A>G (LEPR) MANE Select | ENSP00000330393.7:n.-21+5613A>G | |
| ENST00000371065.9:c.280-812A>G (LEPROT) MANE Select | ENSP00000360104.4:n.280-812A>G | |
| ENST00000349533.10:c.-21+5613A>G (LEPR) | ENSP00000330393.6:n.-21+5613A>G | |
| ENST00000371059.7:c.-21+5613A>G (LEPR) | ENSP00000360098.3:n.-21+5613A>G | |
| ENST00000371060.7:c.-21+5613A>G (LEPR) | ENSP00000360099.3:n.-21+5613A>G | |
| ENST00000371065.8:c.280-812A>G (LEPROT) | ENSP00000360104.4:n.280-812A>G | |
| ENST00000406510.7:c.-641+5613A>G (LEPR) | ENSP00000384025.3:n.-641+5613A>G | |
| ENST00000475108.5:n.231-812A>G (LEPROT) | ||
| ENST00000488747.5:n.228-812A>G (LEPROT) | ||
| ENST00000613538.1:c.307-812A>G (LEPROT) | ENSP00000483521.1:n.307-812A>G | |
| NM_001003679.3:c.-21+5613A>G , LRG_283t1:c.-21+5613A>G (LEPR) | NP_001003679.1:n.-21+5613A>G | |
| NM_001003680.3:c.-21+5613A>G , LRG_283t2:c.-21+5613A>G (LEPR) | NP_001003680.1:n.-21+5613A>G | |
| NM_001198681.1:c.307-812A>G (LEPROT) | NP_001185610.1:n.307-812A>G | |
| NM_002303.5:c.-21+5613A>G , LRG_283t3:c.-21+5613A>G (LEPR) | NP_002294.2:n.-21+5613A>G | |
| NM_017526.4:c.280-812A>G (LEPROT) | NP_059996.1:n.280-812A>G | |
| NM_017526.5:c.280-812A>G (LEPROT) MANE Select | NP_059996.1:n.280-812A>G | |
| NM_002303.6:c.-21+5613A>G (LEPR) MANE Select | NP_002294.2:n.-21+5613A>G | |
| NM_001198681.2:c.307-812A>G (LEPROT) | NP_001185610.1:n.307-812A>G |