Linked Data
ClinVar Variation Id:
450162
ClinVar RCV Id:
RCV000523996
dbSNP Id:
rs148985854
ExAC:
12:48375564 C / T
gnomAD v2:
12-48375564-C-T
gnomAD v3:
12-47981781-C-T
gnomAD v4:
12-47981781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47981781C>T , CM000674.2:g.47981781C>T | GRCh38 |
| NC_000012.11:g.48375564C>T , CM000674.1:g.48375564C>T | GRCh37 |
| NC_000012.10:g.46661831C>T | NCBI36 |
| NG_008072.1:g.27722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2197G>A | ENSP00000338213.6:p.Glu733Lys | |
| ENST00000380518.8:c.2404G>A MANE Select | ENSP00000369889.3:p.Glu802Lys | |
| ENST00000337299.6:c.2197G>A | ENSP00000338213.6:p.Glu733Lys | |
| ENST00000380518.7:c.2404G>A | ENSP00000369889.3:p.Glu802Lys | |
| ENST00000483376.1:n.582G>A | ||
| ENST00000493991.5:n.1490G>A | ||
| NM_001844.4:c.2404G>A | NP_001835.3:p.Glu802Lys | |
| NM_033150.2:c.2197G>A | NP_149162.2:p.Glu733Lys | |
| XM_006719242.2:c.2548G>A | XP_006719305.2:p.Glu850Lys | |
| XM_011537928.1:c.2548G>A | XP_011536230.1:p.Glu850Lys | |
| XM_011537929.1:c.2548G>A | XP_011536231.1:p.Glu850Lys | |
| XM_011537930.1:c.2548G>A | XP_011536232.1:p.Glu850Lys | |
| XM_011537931.1:c.2548G>A | XP_011536233.1:p.Glu850Lys | |
| XM_011537932.1:c.2548G>A | XP_011536234.1:p.Glu850Lys | |
| XM_011537933.1:c.2548G>A | XP_011536235.1:p.Glu850Lys | |
| XM_011537934.1:c.2545G>A | XP_011536236.1:p.Glu849Lys | |
| XM_011537935.1:c.1492G>A | XP_011536237.1:p.Glu498Lys | |
| XR_944910.1:n.208+355C>T | ||
| XM_017018828.1:c.2548G>A | XP_016874317.1:p.Glu850Lys | |
| XM_017018829.1:c.2545G>A | XP_016874318.1:p.Glu849Lys | |
| XM_017018830.1:c.2338G>A | XP_016874319.1:p.Glu780Lys | |
| XM_017018831.2:c.1858G>A | XP_016874320.1:p.Glu620Lys | |
| NM_001844.5:c.2404G>A MANE Select | NP_001835.3:p.Glu802Lys | |
| NM_033150.3:c.2197G>A | NP_149162.2:p.Glu733Lys |