Linked Data
ClinVar Variation Id:
2064880
dbSNP Id:
rs772223589
gnomAD v2:
7-117230445-C-G
gnomAD v4:
7-117590391-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117590391C>G , CM000669.2:g.117590391C>G | GRCh38 |
| NC_000007.13:g.117230445C>G , CM000669.1:g.117230445C>G | GRCh37 |
| NC_000007.12:g.117017681C>G | NCBI36 |
| NG_016465.4:g.129608C>G , LRG_663:g.129608C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1718C>G | ENSP00000497673.2:p.Ser573Cys | |
| ENST00000647978.2:c.*1432C>G | ENSP00000497658.1:n.*1432C>G | |
| ENST00000649781.2:c.1535C>G | ENSP00000497203.1:p.Ser512Cys | |
| ENST00000685018.2:c.1718C>G | ENSP00000510194.2:p.Ser573Cys | |
| ENST00000687278.2:c.1718C>G | ENSP00000509593.2:p.Ser573Cys | |
| ENST00000699585.1:c.1718C>G | ENSP00000514456.1:p.Ser573Cys | |
| ENST00000699598.1:c.1718C>G | ENSP00000514467.1:p.Ser573Cys | |
| ENST00000699599.1:c.1718C>G | ENSP00000514468.1:p.Ser573Cys | |
| ENST00000699600.1:c.1718C>G | ENSP00000514469.1:p.Ser573Cys | |
| ENST00000699601.1:c.*18C>G | ENSP00000514470.1:n.*18C>G | |
| ENST00000699602.1:c.1718C>G | ENSP00000514471.1:p.Ser573Cys | |
| ENST00000699604.1:c.*1542C>G | ENSP00000514472.1:n.*1542C>G | |
| ENST00000699605.1:c.1292C>G | ENSP00000514473.1:p.Ser431Cys | |
| ENST00000003084.11:c.1718C>G MANE Select | ENSP00000003084.6:p.Ser573Cys | |
| ENST00000647978.1:c.*1432C>G | ENSP00000497658.1:n.*1432C>G | |
| ENST00000648260.1:c.1402-12435C>G | ENSP00000497957.1:n.1402-12435C>G | |
| ENST00000649406.1:c.1535C>G | ENSP00000497965.1:p.Ser512Cys | |
| ENST00000649781.1:c.1535C>G | ENSP00000497203.1:p.Ser512Cys | |
| ENST00000003084.10:c.1718C>G | ENSP00000003084.6:p.Ser573Cys | |
| ENST00000426809.5:c.1628C>G | ENSP00000389119.1:p.Ser543Cys | |
| NM_000492.3:c.1718C>G , LRG_663t1:c.1718C>G | NP_000483.3:p.Ser573Cys | |
| XM_011515751.1:c.1808C>G | XP_011514053.1:p.Ser603Cys | |
| XM_011515752.1:c.1808C>G | XP_011514054.1:p.Ser603Cys | |
| XM_011515753.1:c.1475C>G | XP_011514055.1:p.Ser492Cys | |
| XM_011515754.1:c.1475C>G | XP_011514056.1:p.Ser492Cys | |
| NM_000492.4:c.1718C>G MANE Select | NP_000483.3:p.Ser573Cys |