Linked Data
ClinVar Variation Id:
1734257
ClinVar RCV Id:
RCV002349058
dbSNP Id:
rs1325095190
gnomAD v3:
7-117642438-G-T
gnomAD v4:
7-117642438-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642438G>T , CM000669.2:g.117642438G>T | GRCh38 |
| NC_000007.13:g.117282492G>T , CM000669.1:g.117282492G>T | GRCh37 |
| NC_000007.12:g.117069728G>T | NCBI36 |
| NG_016465.4:g.181655G>T , LRG_663:g.181655G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3518G>T | ENSP00000497673.2:p.Gly1173Val | |
| ENST00000647978.2:c.*3432G>T | ENSP00000497658.1:n.*3432G>T | |
| ENST00000649781.2:c.3535G>T | ENSP00000497203.1:p.Val1179Leu | |
| ENST00000685018.2:c.3718G>T | ENSP00000510194.2:p.Val1240Leu | |
| ENST00000687278.2:c.*371G>T | ENSP00000509593.2:n.*371G>T | |
| ENST00000699585.1:c.3518G>T | ENSP00000514456.1:p.Gly1173Val | |
| ENST00000699598.1:c.3718G>T | ENSP00000514467.1:p.Val1240Leu | |
| ENST00000699599.1:c.3718G>T | ENSP00000514468.1:p.Val1240Leu | |
| ENST00000699600.1:c.*379G>T | ENSP00000514469.1:n.*379G>T | |
| ENST00000699601.1:c.*2093G>T | ENSP00000514470.1:n.*2093G>T | |
| ENST00000699602.1:c.3712G>T | ENSP00000514471.1:p.Val1238Leu | |
| ENST00000699604.1:c.*3542G>T | ENSP00000514472.1:n.*3542G>T | |
| ENST00000699605.1:c.3292G>T | ENSP00000514473.1:p.Val1098Leu | |
| ENST00000685018.1:c.466G>T | ENSP00000510194.1:p.Val156Leu | |
| ENST00000687278.1:c.1505G>T | ENSP00000509593.1:n.1505G>T | |
| ENST00000689011.1:c.300G>T | ||
| ENST00000003084.11:c.3718G>T MANE Select | ENSP00000003084.6:p.Val1240Leu | |
| ENST00000647720.1:c.1168G>T | ||
| ENST00000649781.1:c.3535G>T | ENSP00000497203.1:p.Val1179Leu | |
| ENST00000003084.10:c.3718G>T | ENSP00000003084.6:p.Val1240Leu | |
| ENST00000426809.5:c.3628G>T | ENSP00000389119.1:p.Val1210Leu | |
| NM_000492.3:c.3718G>T , LRG_663t1:c.3718G>T | NP_000483.3:p.Val1240Leu | |
| XM_011515751.1:c.3808G>T | XP_011514053.1:p.Val1270Leu | |
| XM_011515752.1:c.3808G>T | XP_011514054.1:p.Val1270Leu | |
| XM_011515753.1:c.3475G>T | XP_011514055.1:p.Val1159Leu | |
| XM_011515754.1:c.3475G>T | XP_011514056.1:p.Val1159Leu | |
| NM_000492.4:c.3718G>T MANE Select | NP_000483.3:p.Val1240Leu |