Linked Data
ClinVar Variation Id:
53986
dbSNP Id:
rs397508744
gnomAD v4:
7-117534309-A-G
PubMed:
PMID:15698946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117534309A>G , CM000669.2:g.117534309A>G | GRCh38 |
| NC_000007.13:g.117174363A>G , CM000669.1:g.117174363A>G | GRCh37 |
| NC_000007.12:g.116961599A>G | NCBI36 |
| NG_016465.4:g.73526A>G , LRG_663:g.73526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.523A>G | ENSP00000497673.2:p.Ile175Val | |
| ENST00000647978.2:c.*420A>G | ENSP00000497658.1:n.*420A>G | |
| ENST00000649781.2:c.523A>G | ENSP00000497203.1:p.Ile175Val | |
| ENST00000685018.2:c.523A>G | ENSP00000510194.2:p.Ile175Val | |
| ENST00000687278.2:c.523A>G | ENSP00000509593.2:p.Ile175Val | |
| ENST00000699585.1:c.523A>G | ENSP00000514456.1:p.Ile175Val | |
| ENST00000699596.1:c.523A>G | ENSP00000514465.1:p.Ile175Val | |
| ENST00000699597.1:c.523A>G | ENSP00000514466.1:p.Ile175Val | |
| ENST00000699598.1:c.523A>G | ENSP00000514467.1:p.Ile175Val | |
| ENST00000699599.1:c.523A>G | ENSP00000514468.1:p.Ile175Val | |
| ENST00000699600.1:c.523A>G | ENSP00000514469.1:p.Ile175Val | |
| ENST00000699601.1:c.523A>G | ENSP00000514470.1:p.Ile175Val | |
| ENST00000699602.1:c.523A>G | ENSP00000514471.1:p.Ile175Val | |
| ENST00000699604.1:c.*347A>G | ENSP00000514472.1:n.*347A>G | |
| ENST00000699605.1:c.280A>G | ENSP00000514473.1:p.Ile94Val | |
| ENST00000003084.11:c.523A>G MANE Select | ENSP00000003084.6:p.Ile175Val | |
| ENST00000647978.1:c.*420A>G | ENSP00000497658.1:n.*420A>G | |
| ENST00000648260.1:c.523A>G | ENSP00000497957.1:p.Ile175Val | |
| ENST00000649406.1:c.523A>G | ENSP00000497965.1:p.Ile175Val | |
| ENST00000649781.1:c.523A>G | ENSP00000497203.1:p.Ile175Val | |
| ENST00000673785.1:c.280A>G | ENSP00000501235.1:p.Ile94Val | |
| ENST00000003084.10:c.523A>G | ENSP00000003084.6:p.Ile175Val | |
| ENST00000426809.5:c.490-939A>G | ENSP00000389119.1:n.490-939A>G | |
| NM_000492.3:c.523A>G , LRG_663t1:c.523A>G | NP_000483.3:p.Ile175Val | |
| XM_011515751.1:c.613A>G | XP_011514053.1:p.Ile205Val | |
| XM_011515752.1:c.613A>G | XP_011514054.1:p.Ile205Val | |
| XM_011515753.1:c.280A>G | XP_011514055.1:p.Ile94Val | |
| XM_011515754.1:c.280A>G | XP_011514056.1:p.Ile94Val | |
| NM_000492.4:c.523A>G MANE Select | NP_000483.3:p.Ile175Val |