Linked Data
ClinVar Variation Id:
53854
ClinVar RCV Id:
RCV000577670
dbSNP Id:
rs397508643
gnomAD v3:
7-117652890-G-T
gnomAD v4:
7-117652890-G-T
PubMed:
PMID:19845690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652890G>T , CM000669.2:g.117652890G>T | GRCh38 |
| NC_000007.13:g.117292944G>T , CM000669.1:g.117292944G>T | GRCh37 |
| NC_000007.12:g.117080180G>T | NCBI36 |
| NG_016465.4:g.192107G>T , LRG_663:g.192107G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*131G>T | ENSP00000497673.2:n.*131G>T | |
| ENST00000647978.2:c.*3636G>T | ENSP00000497658.1:n.*3636G>T | |
| ENST00000649781.2:c.3739G>T | ENSP00000497203.1:p.Glu1247Ter | |
| ENST00000685018.2:c.*135G>T | ENSP00000510194.2:n.*135G>T | |
| ENST00000687278.2:c.*575G>T | ENSP00000509593.2:n.*575G>T | |
| ENST00000699585.1:c.*131G>T | ENSP00000514456.1:n.*131G>T | |
| ENST00000699598.1:c.3922G>T | ENSP00000514467.1:p.Glu1308Ter | |
| ENST00000699599.1:c.*135G>T | ENSP00000514468.1:n.*135G>T | |
| ENST00000699600.1:c.*583G>T | ENSP00000514469.1:n.*583G>T | |
| ENST00000699601.1:c.*2297G>T | ENSP00000514470.1:n.*2297G>T | |
| ENST00000699602.1:c.3916G>T | ENSP00000514471.1:p.Glu1306Ter | |
| ENST00000699604.1:c.*3746G>T | ENSP00000514472.1:n.*3746G>T | |
| ENST00000699605.1:c.3496G>T | ENSP00000514473.1:p.Glu1166Ter | |
| ENST00000699606.1:n.2090G>T | ||
| ENST00000685018.1:c.786G>T | ENSP00000510194.1:n.786G>T | |
| ENST00000687278.1:c.1709G>T | ENSP00000509593.1:n.1709G>T | |
| ENST00000689011.1:c.504G>T | ||
| ENST00000003084.11:c.3922G>T MANE Select | ENSP00000003084.6:p.Glu1308Ter | |
| ENST00000647720.1:c.1372G>T | ||
| ENST00000649781.1:c.3739G>T | ENSP00000497203.1:p.Glu1247Ter | |
| ENST00000003084.10:c.3922G>T | ENSP00000003084.6:p.Glu1308Ter | |
| ENST00000426809.5:c.3832G>T | ENSP00000389119.1:p.Glu1278Ter | |
| ENST00000600166.1:c.48G>T | ||
| NM_000492.3:c.3922G>T , LRG_663t1:c.3922G>T | NP_000483.3:p.Glu1308Ter | |
| XM_011515751.1:c.4012G>T | XP_011514053.1:p.Glu1338Ter | |
| XM_011515752.1:c.4012G>T | XP_011514054.1:p.Glu1338Ter | |
| XM_011515753.1:c.3679G>T | XP_011514055.1:p.Glu1227Ter | |
| XM_011515754.1:c.3679G>T | XP_011514056.1:p.Glu1227Ter | |
| NM_000492.4:c.3922G>T MANE Select | NP_000483.3:p.Glu1308Ter |