Linked Data
ClinVar Variation Id:
8267
dbSNP Id:
rs1799864
ExAC:
3:46399208 G / A
gnomAD v2:
3-46399208-G-A
gnomAD v3:
3-46357717-G-A
gnomAD v4:
3-46357717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46357717G>A , CM000665.2:g.46357717G>A | GRCh38 |
| NC_000003.11:g.46399208G>A , CM000665.1:g.46399208G>A | GRCh37 |
| NC_000003.10:g.46374212G>A | NCBI36 |
| NG_021428.1:g.8974G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445132.3:c.190G>A MANE Select | ENSP00000399285.2:p.Val64Ile | |
| ENST00000292301.4:c.190G>A | ENSP00000292301.3:p.Val64Ile | |
| ENST00000400888.2:c.190G>A | ENSP00000383681.2:p.Val64Ile | |
| ENST00000421659.1:c.190G>A | ENSP00000396736.1:p.Val64Ile | |
| ENST00000445132.2:c.190G>A | ENSP00000399285.2:p.Val64Ile | |
| ENST00000465202.1:n.315-400G>A | ||
| NM_001123041.2:c.190G>A | NP_001116513.2:p.Val64Ile | |
| NM_001123396.1:c.190G>A | NP_001116868.1:p.Val64Ile | |
| XM_011534069.1:c.190G>A | XP_011532371.1:p.Val64Ile | |
| NM_001123396.2:c.190G>A | NP_001116868.1:p.Val64Ile | |
| NM_001123396.3:c.190G>A | NP_001116868.1:p.Val64Ile | |
| NM_001123041.3:c.190G>A | NP_001116513.2:p.Val64Ile | |
| NM_001123396.4:c.190G>A MANE Select | NP_001116868.1:p.Val64Ile |