Linked Data
ClinVar Variation Id:
598323
dbSNP Id:
rs77010898
ExAC:
7:117282620 G / C
gnomAD v2:
7-117282620-G-C
gnomAD v3:
7-117642566-G-C
gnomAD v4:
7-117642566-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642566G>C , CM000669.2:g.117642566G>C | GRCh38 |
| NC_000007.13:g.117282620G>C , CM000669.1:g.117282620G>C | GRCh37 |
| NC_000007.12:g.117069856G>C | NCBI36 |
| NG_016465.4:g.181783G>C , LRG_663:g.181783G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*55G>C | ENSP00000497673.2:n.*55G>C | |
| ENST00000647978.2:c.*3560G>C | ENSP00000497658.1:n.*3560G>C | |
| ENST00000649781.2:c.3663G>C | ENSP00000497203.1:p.Trp1221Cys | |
| ENST00000685018.2:c.3846G>C | ENSP00000510194.2:p.Trp1282Cys | |
| ENST00000687278.2:c.*499G>C | ENSP00000509593.2:n.*499G>C | |
| ENST00000699585.1:c.*55G>C | ENSP00000514456.1:n.*55G>C | |
| ENST00000699598.1:c.3846G>C | ENSP00000514467.1:p.Trp1282Cys | |
| ENST00000699599.1:c.3846G>C | ENSP00000514468.1:p.Trp1282Cys | |
| ENST00000699600.1:c.*507G>C | ENSP00000514469.1:n.*507G>C | |
| ENST00000699601.1:c.*2221G>C | ENSP00000514470.1:n.*2221G>C | |
| ENST00000699602.1:c.3840G>C | ENSP00000514471.1:p.Trp1280Cys | |
| ENST00000699604.1:c.*3670G>C | ENSP00000514472.1:n.*3670G>C | |
| ENST00000699605.1:c.3420G>C | ENSP00000514473.1:p.Trp1140Cys | |
| ENST00000685018.1:c.594G>C | ENSP00000510194.1:p.Trp198Cys | |
| ENST00000687278.1:c.1633G>C | ENSP00000509593.1:n.1633G>C | |
| ENST00000689011.1:c.428G>C | ||
| ENST00000003084.11:c.3846G>C MANE Select | ENSP00000003084.6:p.Trp1282Cys | |
| ENST00000647720.1:c.1296G>C | ||
| ENST00000649781.1:c.3663G>C | ENSP00000497203.1:p.Trp1221Cys | |
| ENST00000003084.10:c.3846G>C | ENSP00000003084.6:p.Trp1282Cys | |
| ENST00000426809.5:c.3756G>C | ENSP00000389119.1:p.Trp1252Cys | |
| NM_000492.3:c.3846G>C , LRG_663t1:c.3846G>C | NP_000483.3:p.Trp1282Cys | |
| XM_011515751.1:c.3936G>C | XP_011514053.1:p.Trp1312Cys | |
| XM_011515752.1:c.3936G>C | XP_011514054.1:p.Trp1312Cys | |
| XM_011515753.1:c.3603G>C | XP_011514055.1:p.Trp1201Cys | |
| XM_011515754.1:c.3603G>C | XP_011514056.1:p.Trp1201Cys | |
| NM_000492.4:c.3846G>C MANE Select | NP_000483.3:p.Trp1282Cys |