Linked Data
ClinVar Variation Id:
133701
dbSNP Id:
rs28385141
ExAC:
15:91347451 G / A
gnomAD v2:
15-91347451-G-A
gnomAD v3:
15-90804221-G-A
gnomAD v4:
15-90804221-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90804221G>A , CM000677.2:g.90804221G>A | GRCh38 |
| NC_000015.9:g.91347451G>A , CM000677.1:g.91347451G>A | GRCh37 |
| NC_000015.8:g.89148455G>A | NCBI36 |
| NG_007272.1:g.91850G>A , LRG_20:g.91850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3613G>A MANE Select | ENSP00000347232.3:p.Val1205Ile | |
| ENST00000560559.2:n.2186G>A | ||
| ENST00000648453.1:c.3613G>A | ENSP00000497646.1:p.Val1205Ile | |
| ENST00000680772.1:c.3613G>A | ENSP00000506117.1:p.Val1205Ile | |
| ENST00000681142.1:c.3613G>A | ENSP00000506682.1:p.Val1205Ile | |
| ENST00000355112.7:c.3613G>A | ENSP00000347232.3:p.Val1205Ile | |
| ENST00000558825.5:n.960G>A | ||
| ENST00000559724.5:c.*2537G>A | ENSP00000453359.1:n.*2537G>A | |
| ENST00000560136.5:n.1639G>A | ||
| ENST00000560509.5:c.3359-4916G>A | ENSP00000454158.1:n.3359-4916G>A | |
| NM_000057.3:c.3613G>A | NP_000048.1:p.Val1205Ile | |
| NM_001287246.1:c.3613G>A | NP_001274175.1:p.Val1205Ile | |
| NM_001287247.1:c.3359-4916G>A | NP_001274176.1:n.3359-4916G>A | |
| NM_001287248.1:c.2488G>A | NP_001274177.1:p.Val830Ile | |
| XM_006720632.2:c.1651G>A | XP_006720695.1:p.Val551Ile | |
| XM_011521881.1:c.2299G>A | XP_011520183.1:p.Val767Ile | |
| XM_011521881.2:c.2299G>A | XP_011520183.1:p.Val767Ile | |
| NM_000057.4:c.3613G>A MANE Select | NP_000048.1:p.Val1205Ile | |
| NM_001287246.2:c.3613G>A | NP_001274175.1:p.Val1205Ile | |
| NM_001287247.2:c.3359-4916G>A | NP_001274176.1:n.3359-4916G>A | |
| NM_001287248.2:c.2488G>A | NP_001274177.1:p.Val830Ile |