Linked Data
gnomAD v4:
1-229431504-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431504A>G , CM000663.2:g.229431504A>G | GRCh38 |
| NC_000001.10:g.229567251A>G , CM000663.1:g.229567251A>G | GRCh37 |
| NC_000001.9:g.227633874A>G | NCBI36 |
| NG_006672.1:g.7593T>C , LRG_429:g.7593T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.1051T>C | ENSP00000355644.4:p.Phe351Leu | |
| ENST00000684723.1:c.994T>C | ENSP00000508084.1:p.Phe332Leu | |
| ENST00000366683.3:c.760T>C | ENSP00000355644.3:p.Phe254Leu | |
| ENST00000366684.7:c.1129T>C MANE Select | ENSP00000355645.3:p.Phe377Leu | |
| NM_001100.3:c.1129T>C , LRG_429t1:c.1129T>C | NP_001091.1:p.Phe377Leu | |
| NM_001100.4:c.1129T>C MANE Select | NP_001091.1:p.Phe377Leu |