gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70293693 (AFR)
Genomes Max Group AF
0.70293693 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65428659C>T , CM000663.2:g.65428659C>T | GRCh38 |
| NC_000001.10:g.65894342C>T , CM000663.1:g.65894342C>T | GRCh37 |
| NC_000001.9:g.65666930C>T | NCBI36 |
| NG_015831.2:g.13095C>T , LRG_283:g.13095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.-21+3281C>T (LEPR) MANE Select | ENSP00000330393.7:n.-21+3281C>T | |
| ENST00000371065.9:c.93-1203C>T (LEPROT) MANE Select | ENSP00000360104.4:n.93-1203C>T | |
| ENST00000349533.10:c.-21+3281C>T (LEPR) | ENSP00000330393.6:n.-21+3281C>T | |
| ENST00000371059.7:c.-21+3281C>T (LEPR) | ENSP00000360098.3:n.-21+3281C>T | |
| ENST00000371060.7:c.-21+3281C>T (LEPR) | ENSP00000360099.3:n.-21+3281C>T | |
| ENST00000371065.8:c.93-1203C>T (LEPROT) | ENSP00000360104.4:n.93-1203C>T | |
| ENST00000406510.7:c.-641+3281C>T (LEPR) | ENSP00000384025.3:n.-641+3281C>T | |
| ENST00000475108.5:n.231-3144C>T (LEPROT) | ||
| ENST00000484243.1:n.108-1203C>T (LEPROT) | ||
| ENST00000488747.5:n.110-1272C>T (LEPROT) | ||
| ENST00000613538.1:c.120-1203C>T (LEPROT) | ENSP00000483521.1:n.120-1203C>T | |
| NM_001003679.3:c.-21+3281C>T , LRG_283t1:c.-21+3281C>T (LEPR) | NP_001003679.1:n.-21+3281C>T | |
| NM_001003680.3:c.-21+3281C>T , LRG_283t2:c.-21+3281C>T (LEPR) | NP_001003680.1:n.-21+3281C>T | |
| NM_001198681.1:c.120-1203C>T (LEPROT) | NP_001185610.1:n.120-1203C>T | |
| NM_002303.5:c.-21+3281C>T , LRG_283t3:c.-21+3281C>T (LEPR) | NP_002294.2:n.-21+3281C>T | |
| NM_017526.4:c.93-1203C>T (LEPROT) | NP_059996.1:n.93-1203C>T | |
| NM_017526.5:c.93-1203C>T (LEPROT) MANE Select | NP_059996.1:n.93-1203C>T | |
| NM_002303.6:c.-21+3281C>T (LEPR) MANE Select | NP_002294.2:n.-21+3281C>T | |
| NM_001198681.2:c.120-1203C>T (LEPROT) | NP_001185610.1:n.120-1203C>T |