Linked Data
ClinVar Variation Id:
133875
dbSNP Id:
rs587778186
gnomAD v3:
12-57750765-C-T
gnomAD v4:
12-57750765-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750765C>T , CM000674.2:g.57750765C>T | GRCh38 |
| NC_000012.11:g.58144548C>T , CM000674.1:g.58144548C>T | GRCh37 |
| NC_000012.10:g.56430815C>T | NCBI36 |
| NG_007484.2:g.6617G>A , LRG_490:g.6617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.523G>A MANE Select | ENSP00000257904.5:p.Val175Ile | |
| ENST00000257904.10:c.523G>A | ENSP00000257904.5:p.Val175Ile | |
| ENST00000312990.10:c.265-94G>A | ENSP00000316889.6:n.265-94G>A | |
| ENST00000546489.5:c.301G>A | ENSP00000447779.1:p.Val101Ile | |
| ENST00000547281.5:c.301G>A | ENSP00000447274.1:p.Val101Ile | |
| ENST00000549606.5:c.-157-1261G>A | ENSP00000447005.1:n.-157-1261G>A | |
| ENST00000550419.5:c.522+158G>A | ENSP00000448098.1:n.522+158G>A | |
| ENST00000551800.5:c.301G>A | ENSP00000449391.1:p.Val101Ile | |
| ENST00000551888.5:n.443-94G>A | ||
| ENST00000552254.5:c.523G>A | ENSP00000449179.1:p.Val175Ile | |
| ENST00000553237.5:c.*162G>A | ENSP00000448885.1:n.*162G>A | |
| NM_000075.3:c.523G>A | NP_000066.1:p.Val175Ile | |
| NM_000075.4:c.523G>A MANE Select | NP_000066.1:p.Val175Ile |