Linked Data
ClinVar Variation Id:
53891
dbSNP Id:
rs397508675
gnomAD v2:
7-117304889-G-T
gnomAD v4:
7-117664835-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664835G>T , CM000669.2:g.117664835G>T | GRCh38 |
| NC_000007.13:g.117304889G>T , CM000669.1:g.117304889G>T | GRCh37 |
| NC_000007.12:g.117092125G>T | NCBI36 |
| NG_016465.4:g.204052G>T , LRG_663:g.204052G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*320G>T | ENSP00000497673.2:n.*320G>T | |
| ENST00000647978.2:c.*3825G>T | ENSP00000497658.1:n.*3825G>T | |
| ENST00000649781.2:c.3928G>T | ENSP00000497203.1:p.Glu1310Ter | |
| ENST00000685018.2:c.*324G>T | ENSP00000510194.2:n.*324G>T | |
| ENST00000687278.2:c.*764G>T | ENSP00000509593.2:n.*764G>T | |
| ENST00000699585.1:c.*320G>T | ENSP00000514456.1:n.*320G>T | |
| ENST00000699598.1:c.4111G>T | ENSP00000514467.1:p.Glu1371Ter | |
| ENST00000699599.1:c.*324G>T | ENSP00000514468.1:n.*324G>T | |
| ENST00000699600.1:c.*772G>T | ENSP00000514469.1:n.*772G>T | |
| ENST00000699601.1:c.*2486G>T | ENSP00000514470.1:n.*2486G>T | |
| ENST00000699602.1:c.4105G>T | ENSP00000514471.1:p.Glu1369Ter | |
| ENST00000699604.1:c.*3935G>T | ENSP00000514472.1:n.*3935G>T | |
| ENST00000699605.1:c.3685G>T | ENSP00000514473.1:p.Glu1229Ter | |
| ENST00000699606.1:n.2279G>T | ||
| ENST00000685018.1:c.975G>T | ENSP00000510194.1:n.975G>T | |
| ENST00000687278.1:c.1898G>T | ENSP00000509593.1:n.1898G>T | |
| ENST00000689011.1:c.693G>T | ||
| ENST00000003084.11:c.4111G>T MANE Select | ENSP00000003084.6:p.Glu1371Ter | |
| ENST00000647720.1:c.1561G>T | ||
| ENST00000649781.1:c.3928G>T | ENSP00000497203.1:p.Glu1310Ter | |
| ENST00000003084.10:c.4111G>T | ENSP00000003084.6:p.Glu1371Ter | |
| ENST00000426809.5:c.4021G>T | ENSP00000389119.1:p.Glu1341Ter | |
| ENST00000600166.1:c.237G>T | ||
| NM_000492.3:c.4111G>T , LRG_663t1:c.4111G>T | NP_000483.3:p.Glu1371Ter | |
| XM_011515751.1:c.4201G>T | XP_011514053.1:p.Glu1401Ter | |
| XM_011515752.1:c.4201G>T | XP_011514054.1:p.Glu1401Ter | |
| XM_011515753.1:c.3868G>T | XP_011514055.1:p.Glu1290Ter | |
| XM_011515754.1:c.3868G>T | XP_011514056.1:p.Glu1290Ter | |
| NM_000492.4:c.4111G>T MANE Select | NP_000483.3:p.Glu1371Ter |