Linked Data
ClinVar Variation Id:
807639
ClinVar RCV Id:
RCV000995819
dbSNP Id:
rs1572282458
gnomAD v4:
1-179561361-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179561361C>T , CM000663.2:g.179561361C>T | GRCh38 |
| NC_000001.10:g.179530496C>T , CM000663.1:g.179530496C>T | GRCh37 |
| NC_000001.9:g.177797119C>T | NCBI36 |
| NG_007535.1:g.19589G>A , LRG_887:g.19589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.379G>A MANE Select | ENSP00000356587.4:p.Val127Ile | |
| ENST00000367615.8:c.379G>A | ENSP00000356587.4:p.Val127Ile | |
| ENST00000367616.4:c.379G>A | ENSP00000356588.4:p.Val127Ile | |
| NM_001297575.1:c.379G>A | NP_001284504.1:p.Val127Ile | |
| NM_014625.3:c.379G>A , LRG_887t1:c.379G>A | NP_055440.1:p.Val127Ile | |
| XM_005245483.2:c.275-1600G>A | XP_005245540.1:n.275-1600G>A | |
| XM_006711529.2:c.379G>A | XP_006711592.1:p.Val127Ile | |
| XM_005245483.3:c.275-1600G>A | XP_005245540.1:n.275-1600G>A | |
| XM_017002298.1:c.379-1600G>A | XP_016857787.1:n.379-1600G>A | |
| XM_017002299.1:c.379G>A | XP_016857788.1:p.Val127Ile | |
| NM_001297575.2:c.379G>A | NP_001284504.1:p.Val127Ile | |
| NM_014625.4:c.379G>A MANE Select | NP_055440.1:p.Val127Ile |