Linked Data
ClinVar Variation Id:
1315369
ClinVar RCV Id:
RCV001774619
dbSNP Id:
rs2136544523
gnomAD v4:
12-47981779-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47981779C>A , CM000674.2:g.47981779C>A | GRCh38 |
| NC_000012.11:g.48375562C>A , CM000674.1:g.48375562C>A | GRCh37 |
| NC_000012.10:g.46661829C>A | NCBI36 |
| NG_008072.1:g.27724G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2199G>T | ENSP00000338213.6:p.Glu733Asp | |
| ENST00000380518.8:c.2406G>T MANE Select | ENSP00000369889.3:p.Glu802Asp | |
| ENST00000337299.6:c.2199G>T | ENSP00000338213.6:p.Glu733Asp | |
| ENST00000380518.7:c.2406G>T | ENSP00000369889.3:p.Glu802Asp | |
| ENST00000483376.1:n.584G>T | ||
| ENST00000493991.5:n.1492G>T | ||
| NM_001844.4:c.2406G>T | NP_001835.3:p.Glu802Asp | |
| NM_033150.2:c.2199G>T | NP_149162.2:p.Glu733Asp | |
| XM_006719242.2:c.2550G>T | XP_006719305.2:p.Glu850Asp | |
| XM_011537928.1:c.2550G>T | XP_011536230.1:p.Glu850Asp | |
| XM_011537929.1:c.2550G>T | XP_011536231.1:p.Glu850Asp | |
| XM_011537930.1:c.2550G>T | XP_011536232.1:p.Glu850Asp | |
| XM_011537931.1:c.2550G>T | XP_011536233.1:p.Glu850Asp | |
| XM_011537932.1:c.2550G>T | XP_011536234.1:p.Glu850Asp | |
| XM_011537933.1:c.2550G>T | XP_011536235.1:p.Glu850Asp | |
| XM_011537934.1:c.2547G>T | XP_011536236.1:p.Glu849Asp | |
| XM_011537935.1:c.1494G>T | XP_011536237.1:p.Glu498Asp | |
| XR_944910.1:n.208+353C>A | ||
| XM_017018828.1:c.2550G>T | XP_016874317.1:p.Glu850Asp | |
| XM_017018829.1:c.2547G>T | XP_016874318.1:p.Glu849Asp | |
| XM_017018830.1:c.2340G>T | XP_016874319.1:p.Glu780Asp | |
| XM_017018831.2:c.1860G>T | XP_016874320.1:p.Glu620Asp | |
| NM_001844.5:c.2406G>T MANE Select | NP_001835.3:p.Glu802Asp | |
| NM_033150.3:c.2199G>T | NP_149162.2:p.Glu733Asp |