Linked Data
ClinVar Variation Id:
53480
dbSNP Id:
rs374946172
ExAC:
7:117232574 C / T
gnomAD v2:
7-117232574-C-T
gnomAD v3:
7-117592520-C-T
gnomAD v4:
7-117592520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592520C>T , CM000669.2:g.117592520C>T | GRCh38 |
| NC_000007.13:g.117232574C>T , CM000669.1:g.117232574C>T | GRCh37 |
| NC_000007.12:g.117019810C>T | NCBI36 |
| NG_016465.4:g.131737C>T , LRG_663:g.131737C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2353C>T | ENSP00000497673.2:p.Arg785Ter | |
| ENST00000647978.2:c.*2067C>T | ENSP00000497658.1:n.*2067C>T | |
| ENST00000649781.2:c.2170C>T | ENSP00000497203.1:p.Arg724Ter | |
| ENST00000685018.2:c.2353C>T | ENSP00000510194.2:p.Arg785Ter | |
| ENST00000687278.2:c.2353C>T | ENSP00000509593.2:p.Arg785Ter | |
| ENST00000699585.1:c.2353C>T | ENSP00000514456.1:p.Arg785Ter | |
| ENST00000699598.1:c.2353C>T | ENSP00000514467.1:p.Arg785Ter | |
| ENST00000699599.1:c.2353C>T | ENSP00000514468.1:p.Arg785Ter | |
| ENST00000699600.1:c.2353C>T | ENSP00000514469.1:p.Arg785Ter | |
| ENST00000699601.1:c.*653C>T | ENSP00000514470.1:n.*653C>T | |
| ENST00000699602.1:c.2353C>T | ENSP00000514471.1:p.Arg785Ter | |
| ENST00000699604.1:c.*2177C>T | ENSP00000514472.1:n.*2177C>T | |
| ENST00000699605.1:c.1927C>T | ENSP00000514473.1:p.Arg643Ter | |
| ENST00000003084.11:c.2353C>T MANE Select | ENSP00000003084.6:p.Arg785Ter | |
| ENST00000647720.1:c.3C>T | ||
| ENST00000647978.1:c.*2067C>T | ENSP00000497658.1:n.*2067C>T | |
| ENST00000648260.1:c.1402-10306C>T | ENSP00000497957.1:n.1402-10306C>T | |
| ENST00000649406.1:c.2170C>T | ENSP00000497965.1:p.Arg724Ter | |
| ENST00000649781.1:c.2170C>T | ENSP00000497203.1:p.Arg724Ter | |
| ENST00000003084.10:c.2353C>T | ENSP00000003084.6:p.Arg785Ter | |
| ENST00000426809.5:c.2263C>T | ENSP00000389119.1:p.Arg755Ter | |
| NM_000492.3:c.2353C>T , LRG_663t1:c.2353C>T | NP_000483.3:p.Arg785Ter | |
| XM_011515751.1:c.2443C>T | XP_011514053.1:p.Arg815Ter | |
| XM_011515752.1:c.2443C>T | XP_011514054.1:p.Arg815Ter | |
| XM_011515753.1:c.2110C>T | XP_011514055.1:p.Arg704Ter | |
| XM_011515754.1:c.2110C>T | XP_011514056.1:p.Arg704Ter | |
| NM_000492.4:c.2353C>T MANE Select | NP_000483.3:p.Arg785Ter |