Linked Data
ClinVar Variation Id:
53946
dbSNP Id:
rs397508716
gnomAD v4:
7-117667082-G-T
PubMed:
PMID:17329263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117667082G>T , CM000669.2:g.117667082G>T | GRCh38 |
| NC_000007.13:g.117307136G>T , CM000669.1:g.117307136G>T | GRCh37 |
| NC_000007.12:g.117094372G>T | NCBI36 |
| NG_016465.4:g.206299G>T , LRG_663:g.206299G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*626G>T | ENSP00000497673.2:n.*626G>T | |
| ENST00000647978.2:c.*4131G>T | ENSP00000497658.1:n.*4131G>T | |
| ENST00000649781.2:c.4234G>T | ENSP00000497203.1:p.Glu1412Ter | |
| ENST00000685018.2:c.*630G>T | ENSP00000510194.2:n.*630G>T | |
| ENST00000687278.2:c.*896-520G>T | ENSP00000509593.2:n.*896-520G>T | |
| ENST00000699585.1:c.*886G>T | ENSP00000514456.1:n.*886G>T | |
| ENST00000699598.1:c.*123G>T | ENSP00000514467.1:n.*123G>T | |
| ENST00000699599.1:c.*630G>T | ENSP00000514468.1:n.*630G>T | |
| ENST00000699600.1:c.*904-520G>T | ENSP00000514469.1:n.*904-520G>T | |
| ENST00000699601.1:c.*2792G>T | ENSP00000514470.1:n.*2792G>T | |
| ENST00000699602.1:c.4411G>T | ENSP00000514471.1:p.Glu1471Ter | |
| ENST00000699604.1:c.*4241G>T | ENSP00000514472.1:n.*4241G>T | |
| ENST00000699605.1:c.3991G>T | ENSP00000514473.1:p.Glu1331Ter | |
| ENST00000699606.1:n.3928G>T | ||
| ENST00000685018.1:c.1281G>T | ENSP00000510194.1:n.1281G>T | |
| ENST00000687278.1:c.2030-520G>T | ENSP00000509593.1:n.2030-520G>T | |
| ENST00000689011.1:c.1259G>T | ||
| ENST00000003084.11:c.4417G>T MANE Select | ENSP00000003084.6:p.Glu1473Ter | |
| ENST00000647720.1:c.1867G>T | ||
| ENST00000649781.1:c.4234G>T | ENSP00000497203.1:p.Glu1412Ter | |
| ENST00000003084.10:c.4417G>T | ENSP00000003084.6:p.Glu1473Ter | |
| ENST00000600166.1:c.368+1518G>T | ||
| NM_000492.3:c.4417G>T , LRG_663t1:c.4417G>T | NP_000483.3:p.Glu1473Ter | |
| XM_011515751.1:c.4507G>T | XP_011514053.1:p.Glu1503Ter | |
| XM_011515753.1:c.4174G>T | XP_011514055.1:p.Glu1392Ter | |
| XM_011515754.1:c.4174G>T | XP_011514056.1:p.Glu1392Ter | |
| NM_000492.4:c.4417G>T MANE Select | NP_000483.3:p.Glu1473Ter |