Linked Data
ClinVar Variation Id:
1034583
dbSNP Id:
rs146508471
gnomAD v3:
1-229432676-G-T
gnomAD v4:
1-229432676-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432676G>T , CM000663.2:g.229432676G>T | GRCh38 |
| NC_000001.10:g.229568423G>T , CM000663.1:g.229568423G>T | GRCh37 |
| NC_000001.9:g.227635046G>T | NCBI36 |
| NG_006672.1:g.6421C>A , LRG_429:g.6421C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.334C>A | ENSP00000355644.4:p.Leu112Ile | |
| ENST00000684723.1:c.199C>A | ENSP00000508084.1:p.Leu67Ile | |
| ENST00000366683.3:c.334C>A | ENSP00000355644.3:p.Leu112Ile | |
| ENST00000366684.7:c.334C>A MANE Select | ENSP00000355645.3:p.Leu112Ile | |
| NM_001100.3:c.334C>A , LRG_429t1:c.334C>A | NP_001091.1:p.Leu112Ile | |
| NM_001100.4:c.334C>A MANE Select | NP_001091.1:p.Leu112Ile |