Linked Data
ClinVar Variation Id:
2938769
ClinVar RCV Id:
RCV003799543
dbSNP Id:
rs767165293
ExAC:
11:68704504 G / A
gnomAD v2:
11-68704504-G-A
gnomAD v3:
11-68937036-G-A
gnomAD v4:
11-68937036-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937036G>A , CM000673.2:g.68937036G>A | GRCh38 |
| NC_000011.9:g.68704504G>A , CM000673.1:g.68704504G>A | GRCh37 |
| NC_000011.8:g.68461080G>A | NCBI36 |
| NG_007976.1:g.38186G>A , LRG_250:g.38186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2556G>A MANE Select | ENSP00000255078.4:p.Glu852= | |
| ENST00000674675.1:c.701G>A | ||
| ENST00000674878.1:c.661G>A | ||
| ENST00000675118.1:c.2044G>A | ||
| ENST00000675389.1:n.831G>A | ||
| ENST00000675615.1:c.2556G>A | ENSP00000502413.1:p.Glu852= | |
| ENST00000675648.1:n.1931G>A | ||
| ENST00000675916.1:c.800G>A | ||
| ENST00000676173.1:n.3301G>A | ||
| ENST00000676182.1:c.987G>A | ||
| ENST00000676228.1:c.*1879G>A | ENSP00000502375.1:n.*1879G>A | |
| ENST00000255078.7:c.2556G>A | ENSP00000255078.3:p.Glu852= | |
| ENST00000539064.5:n.2315G>A | ||
| ENST00000543739.5:n.1549G>A | ||
| NM_002180.2:c.2556G>A , LRG_250t1:c.2556G>A | NP_002171.2:p.Glu852= | |
| XM_005273974.2:c.1545G>A | XP_005274031.1:p.Glu515= | |
| XM_005273975.2:c.1428G>A | XP_005274032.1:p.Glu476= | |
| XM_011544994.1:c.1323G>A | XP_011543296.1:p.Glu441= | |
| XR_949903.1:n.2658G>A | ||
| XM_005273975.3:c.1428G>A | XP_005274032.1:p.Glu476= | |
| XM_017017669.2:c.1545G>A | XP_016873158.1:p.Glu515= | |
| XM_017017670.2:c.1545G>A | XP_016873159.1:p.Glu515= | |
| XR_949903.3:n.2654G>A | ||
| NM_002180.3:c.2556G>A MANE Select | NP_002171.2:p.Glu852= |