Linked Data
ClinVar Variation Id:
53926
dbSNP Id:
rs397508702
ExAC:
7:117305610 C / T
gnomAD v4:
7-117665556-C-T
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665556C>T , CM000669.2:g.117665556C>T | GRCh38 |
| NC_000007.13:g.117305610C>T , CM000669.1:g.117305610C>T | GRCh37 |
| NC_000007.12:g.117092846C>T | NCBI36 |
| NG_016465.4:g.204773C>T , LRG_663:g.204773C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*443C>T | ENSP00000497673.2:n.*443C>T | |
| ENST00000647978.2:c.*3948C>T | ENSP00000497658.1:n.*3948C>T | |
| ENST00000649781.2:c.4051C>T | ENSP00000497203.1:p.Gln1351Ter | |
| ENST00000685018.2:c.*447C>T | ENSP00000510194.2:n.*447C>T | |
| ENST00000687278.2:c.*887C>T | ENSP00000509593.2:n.*887C>T | |
| ENST00000699585.1:c.*443C>T | ENSP00000514456.1:n.*443C>T | |
| ENST00000699598.1:c.4234C>T | ENSP00000514467.1:p.Gln1412Ter | |
| ENST00000699599.1:c.*447C>T | ENSP00000514468.1:n.*447C>T | |
| ENST00000699600.1:c.*895C>T | ENSP00000514469.1:n.*895C>T | |
| ENST00000699601.1:c.*2609C>T | ENSP00000514470.1:n.*2609C>T | |
| ENST00000699602.1:c.4228C>T | ENSP00000514471.1:p.Gln1410Ter | |
| ENST00000699604.1:c.*4058C>T | ENSP00000514472.1:n.*4058C>T | |
| ENST00000699605.1:c.3808C>T | ENSP00000514473.1:p.Gln1270Ter | |
| ENST00000699606.1:n.2402C>T | ||
| ENST00000685018.1:c.1098C>T | ENSP00000510194.1:n.1098C>T | |
| ENST00000687278.1:c.2021C>T | ENSP00000509593.1:n.2021C>T | |
| ENST00000689011.1:c.816C>T | ||
| ENST00000003084.11:c.4234C>T MANE Select | ENSP00000003084.6:p.Gln1412Ter | |
| ENST00000647720.1:c.1684C>T | ||
| ENST00000649781.1:c.4051C>T | ENSP00000497203.1:p.Gln1351Ter | |
| ENST00000003084.10:c.4234C>T | ENSP00000003084.6:p.Gln1412Ter | |
| ENST00000426809.5:c.4144C>T | ENSP00000389119.1:p.Gln1382Ter | |
| ENST00000600166.1:c.360C>T | ||
| NM_000492.3:c.4234C>T , LRG_663t1:c.4234C>T | NP_000483.3:p.Gln1412Ter | |
| XM_011515751.1:c.4324C>T | XP_011514053.1:p.Gln1442Ter | |
| XM_011515752.1:c.4324C>T | XP_011514054.1:p.Gln1442Ter | |
| XM_011515753.1:c.3991C>T | XP_011514055.1:p.Gln1331Ter | |
| XM_011515754.1:c.3991C>T | XP_011514056.1:p.Gln1331Ter | |
| NM_000492.4:c.4234C>T MANE Select | NP_000483.3:p.Gln1412Ter |