Linked Data
ClinVar Variation Id:
297984
dbSNP Id:
rs13306523
ExAC:
1:65890990 C / T
gnomAD v2:
1-65890990-C-T
gnomAD v3:
1-65425307-C-T
gnomAD v4:
1-65425307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65425307C>T , CM000663.2:g.65425307C>T | GRCh38 |
| NC_000001.10:g.65890990C>T , CM000663.1:g.65890990C>T | GRCh37 |
| NC_000001.9:g.65663578C>T | NCBI36 |
| NG_015831.2:g.9743C>T , LRG_283:g.9743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.-92C>T (LEPR) MANE Select | ENSP00000330393.7:n.-92C>T | |
| ENST00000371065.9:c.21C>T (LEPROT) MANE Select | ENSP00000360104.4:p.Leu7= | |
| ENST00000349533.10:c.-92C>T (LEPR) | ENSP00000330393.6:n.-92C>T | |
| ENST00000371059.7:c.-92C>T (LEPR) | ENSP00000360098.3:n.-92C>T | |
| ENST00000371060.7:c.-92C>T (LEPR) | ENSP00000360099.3:n.-92C>T | |
| ENST00000371065.8:c.21C>T (LEPROT) | ENSP00000360104.4:p.Leu7= | |
| ENST00000406510.7:c.-712C>T (LEPR) | ENSP00000384025.3:n.-712C>T | |
| ENST00000475108.5:n.159C>T (LEPROT) | ||
| ENST00000484243.1:n.36C>T (LEPROT) | ||
| ENST00000488747.5:n.38C>T (LEPROT) | ||
| ENST00000497874.5:n.78C>T (LEPROT) | ||
| ENST00000613538.1:c.48C>T (LEPROT) | ENSP00000483521.1:p.Leu16= | |
| NM_001003679.3:c.-92C>T , LRG_283t1:c.-92C>T (LEPR) | NP_001003679.1:n.-92C>T | |
| NM_001003680.3:c.-92C>T , LRG_283t2:c.-92C>T (LEPR) | NP_001003680.1:n.-92C>T | |
| NM_001198681.1:c.48C>T (LEPROT) | NP_001185610.1:p.Leu16= | |
| NM_001198683.1:c.21C>T (LEPROT) | NP_001185612.1:p.Leu7= | |
| NM_002303.5:c.-92C>T , LRG_283t3:c.-92C>T (LEPR) | NP_002294.2:n.-92C>T | |
| NM_017526.4:c.21C>T (LEPROT) | NP_059996.1:p.Leu7= | |
| NM_017526.5:c.21C>T (LEPROT) MANE Select | NP_059996.1:p.Leu7= | |
| NM_001198683.2:c.21C>T (LEPROT) | NP_001185612.1:p.Leu7= | |
| NM_002303.6:c.-92C>T (LEPR) MANE Select | NP_002294.2:n.-92C>T | |
| NM_001198681.2:c.48C>T (LEPROT) | NP_001185610.1:p.Leu16= |