Linked Data
ClinVar Variation Id:
214642
ClinVar RCV Id:
RCV000199052
RCV000767173
RCV001087915
RCV001174298
RCV001099689
RCV001331980
RCV002444798
dbSNP Id:
rs147136530
ExAC:
1:12061483 G / C
gnomAD v2:
1-12061483-G-C
gnomAD v3:
1-12001426-G-C
gnomAD v4:
1-12001426-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12001426G>C , CM000663.2:g.12001426G>C | GRCh38 |
| NC_000001.10:g.12061483G>C , CM000663.1:g.12061483G>C | GRCh37 |
| NC_000001.9:g.11984070G>C | NCBI36 |
| NG_007945.1:g.26246G>C , LRG_255:g.26246G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.842G>C MANE Select | ENSP00000235329.5:p.Cys281Ser | |
| ENST00000674548.1:c.842G>C | ENSP00000502185.1:p.Cys281Ser | |
| ENST00000674658.1:c.497G>C | ENSP00000502334.1:p.Cys166Ser | |
| ENST00000674817.1:c.842G>C | ENSP00000502151.1:p.Cys281Ser | |
| ENST00000674910.1:c.842G>C | ENSP00000501716.1:p.Cys281Ser | |
| ENST00000675053.1:c.842G>C | ENSP00000501646.1:p.Cys281Ser | |
| ENST00000675113.1:c.842G>C | ENSP00000502623.1:p.Cys281Ser | |
| ENST00000675194.1:n.1267G>C | ||
| ENST00000675231.1:c.842G>C | ENSP00000502404.1:p.Cys281Ser | |
| ENST00000675298.1:c.842G>C | ENSP00000501839.1:p.Cys281Ser | |
| ENST00000675404.1:n.1077G>C | ||
| ENST00000675483.1:n.970G>C | ||
| ENST00000675512.1:c.*844G>C | ENSP00000502630.1:n.*844G>C | |
| ENST00000675528.1:n.333G>C | ||
| ENST00000675817.1:c.842G>C | ENSP00000502422.1:p.Cys281Ser | |
| ENST00000675872.1:n.1202G>C | ||
| ENST00000675919.1:c.842G>C | ENSP00000501776.1:p.Cys281Ser | |
| ENST00000675959.1:n.1348G>C | ||
| ENST00000675987.1:c.842G>C | ENSP00000502145.1:p.Cys281Ser | |
| ENST00000676293.1:c.842G>C | ENSP00000502362.1:p.Cys281Ser | |
| ENST00000676426.1:c.625G>C | ENSP00000502359.1:p.Val209Leu | |
| ENST00000235329.9:c.842G>C | ENSP00000235329.5:p.Cys281Ser | |
| ENST00000444836.5:c.842G>C | ENSP00000416338.1:p.Cys281Ser | |
| NM_001127660.1:c.842G>C | NP_001121132.1:p.Cys281Ser | |
| NM_014874.3:c.842G>C , LRG_255t1:c.842G>C | NP_055689.1:p.Cys281Ser | |
| XM_005263543.2:c.842G>C | XP_005263600.1:p.Cys281Ser | |
| XM_005263545.2:c.842G>C | XP_005263602.1:p.Cys281Ser | |
| XM_005263547.2:c.842G>C | XP_005263604.1:p.Cys281Ser | |
| XM_005263548.2:c.842G>C | XP_005263605.1:p.Cys281Ser | |
| XM_005263543.3:c.842G>C | XP_005263600.1:p.Cys281Ser | |
| XM_005263545.3:c.842G>C | XP_005263602.1:p.Cys281Ser | |
| XM_005263547.3:c.842G>C | XP_005263604.1:p.Cys281Ser | |
| XM_005263548.3:c.842G>C | XP_005263605.1:p.Cys281Ser | |
| XM_024451299.1:c.842G>C | XP_024307067.1:p.Cys281Ser | |
| NM_014874.4:c.842G>C MANE Select | NP_055689.1:p.Cys281Ser | |
| NM_001127660.2:c.842G>C | NP_001121132.1:p.Cys281Ser |