Linked Data
ClinVar Variation Id:
246241
dbSNP Id:
rs202143060
ExAC:
11:68704502 G / C
gnomAD v2:
11-68704502-G-C
gnomAD v3:
11-68937034-G-C
gnomAD v4:
11-68937034-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937034G>C , CM000673.2:g.68937034G>C | GRCh38 |
| NC_000011.9:g.68704502G>C , CM000673.1:g.68704502G>C | GRCh37 |
| NC_000011.8:g.68461078G>C | NCBI36 |
| NG_007976.1:g.38184G>C , LRG_250:g.38184G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2554G>C MANE Select | ENSP00000255078.4:p.Glu852Gln | |
| ENST00000674675.1:c.699G>C | ||
| ENST00000674878.1:c.659G>C | ||
| ENST00000675118.1:c.2042G>C | ||
| ENST00000675389.1:n.829G>C | ||
| ENST00000675615.1:c.2554G>C | ENSP00000502413.1:p.Glu852Gln | |
| ENST00000675648.1:n.1929G>C | ||
| ENST00000675916.1:c.798G>C | ||
| ENST00000676173.1:n.3299G>C | ||
| ENST00000676182.1:c.985G>C | ||
| ENST00000676228.1:c.*1877G>C | ENSP00000502375.1:n.*1877G>C | |
| ENST00000255078.7:c.2554G>C | ENSP00000255078.3:p.Glu852Gln | |
| ENST00000539064.5:n.2313G>C | ||
| ENST00000543739.5:n.1547G>C | ||
| NM_002180.2:c.2554G>C , LRG_250t1:c.2554G>C | NP_002171.2:p.Glu852Gln | |
| XM_005273974.2:c.1543G>C | XP_005274031.1:p.Glu515Gln | |
| XM_005273975.2:c.1426G>C | XP_005274032.1:p.Glu476Gln | |
| XM_011544994.1:c.1321G>C | XP_011543296.1:p.Glu441Gln | |
| XR_949903.1:n.2656G>C | ||
| XM_005273975.3:c.1426G>C | XP_005274032.1:p.Glu476Gln | |
| XM_017017669.2:c.1543G>C | XP_016873158.1:p.Glu515Gln | |
| XM_017017670.2:c.1543G>C | XP_016873159.1:p.Glu515Gln | |
| XR_949903.3:n.2652G>C | ||
| NM_002180.3:c.2554G>C MANE Select | NP_002171.2:p.Glu852Gln |