Linked Data
ClinVar Variation Id:
855039
ClinVar RCV Id:
RCV001060207
dbSNP Id:
rs768144106
ExAC:
1:229568173 C / A
gnomAD v2:
1-229568173-C-A
gnomAD v3:
1-229432426-C-A
gnomAD v4:
1-229432426-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432426C>A , CM000663.2:g.229432426C>A | GRCh38 |
| NC_000001.10:g.229568173C>A , CM000663.1:g.229568173C>A | GRCh37 |
| NC_000001.9:g.227634796C>A | NCBI36 |
| NG_006672.1:g.6671G>T , LRG_429:g.6671G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.460G>T | ENSP00000355644.4:p.Val154Leu | |
| ENST00000684723.1:c.325G>T | ENSP00000508084.1:p.Val109Leu | |
| ENST00000366683.3:c.460G>T | ENSP00000355644.3:p.Val154Leu | |
| ENST00000366684.7:c.460G>T MANE Select | ENSP00000355645.3:p.Val154Leu | |
| NM_001100.3:c.460G>T , LRG_429t1:c.460G>T | NP_001091.1:p.Val154Leu | |
| NM_001100.4:c.460G>T MANE Select | NP_001091.1:p.Val154Leu |