Linked Data
ClinVar Variation Id:
53721
ClinVar RCV Id:
RCV000576956
dbSNP Id:
rs146521846
ExAC:
7:117251848 C / G
gnomAD v2:
7-117251848-C-G
gnomAD v3:
7-117611794-C-G
gnomAD v4:
7-117611794-C-G
PubMed:
PMID:20059485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611794C>G , CM000669.2:g.117611794C>G | GRCh38 |
| NC_000007.13:g.117251848C>G , CM000669.1:g.117251848C>G | GRCh37 |
| NC_000007.12:g.117039084C>G | NCBI36 |
| NG_016465.4:g.151011C>G , LRG_663:g.151011C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3353C>G | ENSP00000497673.2:p.Ser1118Cys | |
| ENST00000647978.2:c.*3067C>G | ENSP00000497658.1:n.*3067C>G | |
| ENST00000649781.2:c.3170C>G | ENSP00000497203.1:p.Ser1057Cys | |
| ENST00000685018.2:c.3353C>G | ENSP00000510194.2:p.Ser1118Cys | |
| ENST00000687278.2:c.3353C>G | ENSP00000509593.2:p.Ser1118Cys | |
| ENST00000699585.1:c.3353C>G | ENSP00000514456.1:p.Ser1118Cys | |
| ENST00000699598.1:c.3353C>G | ENSP00000514467.1:p.Ser1118Cys | |
| ENST00000699599.1:c.3353C>G | ENSP00000514468.1:p.Ser1118Cys | |
| ENST00000699600.1:c.3353C>G | ENSP00000514469.1:p.Ser1118Cys | |
| ENST00000699601.1:c.*1653C>G | ENSP00000514470.1:n.*1653C>G | |
| ENST00000699602.1:c.3353C>G | ENSP00000514471.1:p.Ser1118Cys | |
| ENST00000699604.1:c.*3177C>G | ENSP00000514472.1:n.*3177C>G | |
| ENST00000699605.1:c.2927C>G | ENSP00000514473.1:p.Ser976Cys | |
| ENST00000685018.1:c.101C>G | ENSP00000510194.1:p.Ser34Cys | |
| ENST00000687278.1:c.944C>G | ENSP00000509593.1:p.Ser315Cys | |
| ENST00000003084.11:c.3353C>G MANE Select | ENSP00000003084.6:p.Ser1118Cys | |
| ENST00000647720.1:c.1003C>G | ||
| ENST00000648260.1:c.2135C>G | ENSP00000497957.1:p.Ser712Cys | |
| ENST00000649406.1:c.3170C>G | ENSP00000497965.1:p.Ser1057Cys | |
| ENST00000649781.1:c.3170C>G | ENSP00000497203.1:p.Ser1057Cys | |
| ENST00000003084.10:c.3353C>G | ENSP00000003084.6:p.Ser1118Cys | |
| ENST00000426809.5:c.3263C>G | ENSP00000389119.1:p.Ser1088Cys | |
| ENST00000468795.1:c.178C>G | ||
| NM_000492.3:c.3353C>G , LRG_663t1:c.3353C>G | NP_000483.3:p.Ser1118Cys | |
| XM_011515751.1:c.3443C>G | XP_011514053.1:p.Ser1148Cys | |
| XM_011515752.1:c.3443C>G | XP_011514054.1:p.Ser1148Cys | |
| XM_011515753.1:c.3110C>G | XP_011514055.1:p.Ser1037Cys | |
| XM_011515754.1:c.3110C>G | XP_011514056.1:p.Ser1037Cys | |
| NM_000492.4:c.3353C>G MANE Select | NP_000483.3:p.Ser1118Cys |