Linked Data
ClinVar Variation Id:
199133
ClinVar RCV Id:
RCV000180646
RCV000321170
RCV000205710
RCV000986246
RCV000658493
RCV001172690
RCV002492791
RCV002444723
dbSNP Id:
rs41278630
ExAC:
1:12061533 G / A
gnomAD v2:
1-12061533-G-A
gnomAD v3:
1-12001476-G-A
gnomAD v4:
1-12001476-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12001476G>A , CM000663.2:g.12001476G>A | GRCh38 |
| NC_000001.10:g.12061533G>A , CM000663.1:g.12061533G>A | GRCh37 |
| NC_000001.9:g.11984120G>A | NCBI36 |
| NG_007945.1:g.26296G>A , LRG_255:g.26296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.892G>A MANE Select | ENSP00000235329.5:p.Gly298Arg | |
| ENST00000674548.1:c.892G>A | ENSP00000502185.1:p.Gly298Arg | |
| ENST00000674658.1:c.547G>A | ENSP00000502334.1:p.Gly183Arg | |
| ENST00000674817.1:c.892G>A | ENSP00000502151.1:p.Gly298Arg | |
| ENST00000674910.1:c.892G>A | ENSP00000501716.1:p.Gly298Arg | |
| ENST00000675053.1:c.892G>A | ENSP00000501646.1:p.Gly298Arg | |
| ENST00000675113.1:c.892G>A | ENSP00000502623.1:p.Gly298Arg | |
| ENST00000675194.1:n.1317G>A | ||
| ENST00000675231.1:c.892G>A | ENSP00000502404.1:p.Gly298Arg | |
| ENST00000675298.1:c.892G>A | ENSP00000501839.1:p.Gly298Arg | |
| ENST00000675404.1:n.1127G>A | ||
| ENST00000675483.1:n.1020G>A | ||
| ENST00000675512.1:c.*894G>A | ENSP00000502630.1:n.*894G>A | |
| ENST00000675528.1:n.383G>A | ||
| ENST00000675817.1:c.892G>A | ENSP00000502422.1:p.Gly298Arg | |
| ENST00000675872.1:n.1252G>A | ||
| ENST00000675919.1:c.892G>A | ENSP00000501776.1:p.Gly298Arg | |
| ENST00000675959.1:n.1398G>A | ||
| ENST00000675987.1:c.892G>A | ENSP00000502145.1:p.Gly298Arg | |
| ENST00000676293.1:c.892G>A | ENSP00000502362.1:p.Gly298Arg | |
| ENST00000676426.1:c.675G>A | ENSP00000502359.1:p.Pro225= | |
| ENST00000235329.9:c.892G>A | ENSP00000235329.5:p.Gly298Arg | |
| ENST00000444836.5:c.892G>A | ENSP00000416338.1:p.Gly298Arg | |
| NM_001127660.1:c.892G>A | NP_001121132.1:p.Gly298Arg | |
| NM_014874.3:c.892G>A , LRG_255t1:c.892G>A | NP_055689.1:p.Gly298Arg | |
| XM_005263543.2:c.892G>A | XP_005263600.1:p.Gly298Arg | |
| XM_005263545.2:c.892G>A | XP_005263602.1:p.Gly298Arg | |
| XM_005263547.2:c.892G>A | XP_005263604.1:p.Gly298Arg | |
| XM_005263548.2:c.892G>A | XP_005263605.1:p.Gly298Arg | |
| XM_005263543.3:c.892G>A | XP_005263600.1:p.Gly298Arg | |
| XM_005263545.3:c.892G>A | XP_005263602.1:p.Gly298Arg | |
| XM_005263547.3:c.892G>A | XP_005263604.1:p.Gly298Arg | |
| XM_005263548.3:c.892G>A | XP_005263605.1:p.Gly298Arg | |
| XM_024451299.1:c.892G>A | XP_024307067.1:p.Gly298Arg | |
| NM_014874.4:c.892G>A MANE Select | NP_055689.1:p.Gly298Arg | |
| NM_001127660.2:c.892G>A | NP_001121132.1:p.Gly298Arg |