Linked Data
ClinVar Variation Id:
53826
dbSNP Id:
rs397508620
gnomAD v2:
7-117282645-C-T
gnomAD v4:
7-117642591-C-T
PubMed:
PMID:11295849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642591C>T , CM000669.2:g.117642591C>T | GRCh38 |
| NC_000007.13:g.117282645C>T , CM000669.1:g.117282645C>T | GRCh37 |
| NC_000007.12:g.117069881C>T | NCBI36 |
| NG_016465.4:g.181808C>T , LRG_663:g.181808C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*80C>T | ENSP00000497673.2:n.*80C>T | |
| ENST00000647978.2:c.*3585C>T | ENSP00000497658.1:n.*3585C>T | |
| ENST00000649781.2:c.3688C>T | ENSP00000497203.1:p.Gln1230Ter | |
| ENST00000685018.2:c.3871C>T | ENSP00000510194.2:p.Gln1291Ter | |
| ENST00000687278.2:c.*524C>T | ENSP00000509593.2:n.*524C>T | |
| ENST00000699585.1:c.*80C>T | ENSP00000514456.1:n.*80C>T | |
| ENST00000699598.1:c.3871C>T | ENSP00000514467.1:p.Gln1291Ter | |
| ENST00000699599.1:c.3871C>T | ENSP00000514468.1:p.Gln1291Ter | |
| ENST00000699600.1:c.*532C>T | ENSP00000514469.1:n.*532C>T | |
| ENST00000699601.1:c.*2246C>T | ENSP00000514470.1:n.*2246C>T | |
| ENST00000699602.1:c.3865C>T | ENSP00000514471.1:p.Gln1289Ter | |
| ENST00000699604.1:c.*3695C>T | ENSP00000514472.1:n.*3695C>T | |
| ENST00000699605.1:c.3445C>T | ENSP00000514473.1:p.Gln1149Ter | |
| ENST00000685018.1:c.619C>T | ENSP00000510194.1:p.Gln207Ter | |
| ENST00000687278.1:c.1658C>T | ENSP00000509593.1:n.1658C>T | |
| ENST00000689011.1:c.453C>T | ||
| ENST00000003084.11:c.3871C>T MANE Select | ENSP00000003084.6:p.Gln1291Ter | |
| ENST00000647720.1:c.1321C>T | ||
| ENST00000649781.1:c.3688C>T | ENSP00000497203.1:p.Gln1230Ter | |
| ENST00000003084.10:c.3871C>T | ENSP00000003084.6:p.Gln1291Ter | |
| ENST00000426809.5:c.3781C>T | ENSP00000389119.1:p.Gln1261Ter | |
| NM_000492.3:c.3871C>T , LRG_663t1:c.3871C>T | NP_000483.3:p.Gln1291Ter | |
| XM_011515751.1:c.3961C>T | XP_011514053.1:p.Gln1321Ter | |
| XM_011515752.1:c.3961C>T | XP_011514054.1:p.Gln1321Ter | |
| XM_011515753.1:c.3628C>T | XP_011514055.1:p.Gln1210Ter | |
| XM_011515754.1:c.3628C>T | XP_011514056.1:p.Gln1210Ter | |
| NM_000492.4:c.3871C>T MANE Select | NP_000483.3:p.Gln1291Ter |