Linked Data
ClinVar Variation Id:
225365
dbSNP Id:
rs144935285
ExAC:
1:171072965 G / A
gnomAD v2:
1-171072965-G-A
gnomAD v3:
1-171103824-G-A
gnomAD v4:
1-171103824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171103824G>A , CM000663.2:g.171103824G>A | GRCh38 |
| NC_000001.10:g.171072965G>A , CM000663.1:g.171072965G>A | GRCh37 |
| NC_000001.9:g.169339589G>A | NCBI36 |
| NG_012690.1:g.17948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.172G>A MANE Select | ENSP00000356729.4:p.Val58Ile | |
| ENST00000367755.8:c.172G>A | ENSP00000356729.4:p.Val58Ile | |
| ENST00000472784.5:c.*152G>A | ENSP00000476963.1:n.*152G>A | |
| ENST00000478457.1:n.485G>A | ||
| ENST00000479749.1:c.172G>A | ENSP00000477451.1:p.Val58Ile | |
| NM_001002294.2:c.172G>A | NP_001002294.1:p.Val58Ile | |
| NM_006894.5:c.172G>A | NP_008825.4:p.Val58Ile | |
| XM_005245044.1:c.133-3851G>A | XP_005245101.1:n.133-3851G>A | |
| XM_011509345.1:c.112G>A | XP_011507647.1:p.Val38Ile | |
| XM_011509346.1:c.112G>A | XP_011507648.1:p.Val38Ile | |
| NM_001319173.1:c.112G>A | NP_001306102.1:p.Val38Ile | |
| NM_001319174.1:c.133-3851G>A | NP_001306103.1:n.133-3851G>A | |
| XM_011509345.3:c.112G>A | XP_011507647.1:p.Val38Ile | |
| NM_001002294.3:c.172G>A MANE Select | NP_001002294.1:p.Val58Ile | |
| NM_001319173.2:c.112G>A | NP_001306102.1:p.Val38Ile | |
| NM_001319174.2:c.133-3851G>A | NP_001306103.1:n.133-3851G>A | |
| NM_006894.6:c.172G>A | NP_008825.4:p.Val58Ile |