Linked Data
ClinVar Variation Id:
1346
dbSNP Id:
rs121918218
ExAC:
1:116206792 G / A
gnomAD v2:
1-116206792-G-A
gnomAD v3:
1-115664171-G-A
gnomAD v4:
1-115664171-G-A
PubMed:
PMID:17409324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115664171G>A , CM000663.2:g.115664171G>A | GRCh38 |
| NC_000001.10:g.116206792G>A , CM000663.1:g.116206792G>A | GRCh37 |
| NC_000001.9:g.116008315G>A | NCBI36 |
| NG_016548.1:g.27219G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355485.7:c.715G>A MANE Select | ENSP00000347672.2:p.Val239Ile | |
| ENST00000310260.7:c.715G>A | ENSP00000310800.3:p.Val239Ile | |
| ENST00000355485.6:c.715G>A | ENSP00000347672.2:p.Val239Ile | |
| ENST00000369509.1:c.715G>A | ENSP00000358522.1:p.Val239Ile | |
| ENST00000369510.8:c.709G>A | ENSP00000358523.3:p.Val237Ile | |
| NM_001172411.1:c.709G>A | NP_001165882.1:p.Val237Ile | |
| NM_001172412.1:c.715G>A | NP_001165883.1:p.Val239Ile | |
| NM_138959.2:c.715G>A | NP_620409.1:p.Val239Ile | |
| NM_138959.3:c.715G>A MANE Select | NP_620409.1:p.Val239Ile | |
| NM_001172411.2:c.709G>A | NP_001165882.1:p.Val237Ile | |
| NM_001172412.2:c.715G>A | NP_001165883.1:p.Val239Ile |