Linked Data
ClinVar Variation Id:
144076
ClinVar RCV Id:
RCV000133588
dbSNP Id:
rs587777671
gnomAD v4:
6-53291808-G-C
PubMed:
PMID:25065913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53291808G>C , CM000668.2:g.53291808G>C | GRCh38 |
| NC_000006.11:g.53156606G>C , CM000668.1:g.53156606G>C | GRCh37 |
| NC_000006.10:g.53264565G>C | NCBI36 |
| NG_034263.1:g.62372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304434.11:c.214C>G MANE Select | ENSP00000306640.6:p.Leu72Val | |
| ENST00000304434.10:c.214C>G | ENSP00000306640.6:p.Leu72Val | |
| ENST00000370918.8:c.214C>G | ENSP00000359956.5:p.Leu72Val | |
| ENST00000465983.5:n.356C>G | ||
| ENST00000485336.5:n.379C>G | ||
| ENST00000486973.1:n.356C>G | ||
| ENST00000542638.5:c.214C>G | ENSP00000440728.2:p.Leu72Val | |
| NM_001242828.1:c.214C>G | NP_001229757.1:p.Leu72Val | |
| NM_001242830.1:c.214C>G | NP_001229759.1:p.Leu72Val | |
| NM_001301856.1:c.214C>G | NP_001288785.1:p.Leu72Val | |
| NM_021814.4:c.214C>G | NP_068586.1:p.Leu72Val | |
| NM_021814.5:c.214C>G MANE Select | NP_068586.1:p.Leu72Val | |
| NM_001301856.2:c.214C>G | NP_001288785.1:p.Leu72Val | |
| NM_001242828.2:c.214C>G | NP_001229757.1:p.Leu72Val | |
| NM_001242830.2:c.214C>G | NP_001229759.1:p.Leu72Val |