Linked Data
ClinVar Variation Id:
397534
ClinVar RCV Id:
RCV000449490
dbSNP Id:
rs1060499666
PubMed:
PMID:24759409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15324670C>T , CM000685.2:g.15324670C>T | GRCh38 |
| NC_000023.10:g.15342792C>T , CM000685.1:g.15342792C>T | GRCh37 |
| NC_000023.9:g.15252713C>T | NCBI36 |
| NG_009786.1:g.15869G>A , LRG_160:g.15869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1183G>A MANE Select | ENSP00000369820.3:p.Glu395Lys | |
| ENST00000637296.1:c.238G>A | ENSP00000490545.1:p.Glu80Lys | |
| ENST00000637626.1:c.*664G>A | ENSP00000489928.1:n.*664G>A | |
| ENST00000638131.1:c.*444G>A | ENSP00000490483.1:n.*444G>A | |
| ENST00000333590.5:c.1183G>A | ENSP00000369820.3:p.Glu395Lys | |
| ENST00000463173.1:n.455G>A | ||
| ENST00000475746.1:c.81+350G>A | ENSP00000488970.1:n.81+350G>A | |
| ENST00000482148.6:c.676G>A | ENSP00000489528.1:p.Glu226Lys | |
| ENST00000542278.6:c.1183G>A | ENSP00000442653.2:p.Glu395Lys | |
| ENST00000634582.1:c.481G>A | ENSP00000489540.1:p.Glu161Lys | |
| ENST00000634640.1:c.238G>A | ENSP00000489083.1:p.Glu80Lys | |
| ENST00000635045.1:n.1416G>A | ||
| ENST00000635598.1:c.*452G>A | ENSP00000489207.1:n.*452G>A | |
| ENST00000635631.1:n.524G>A | ||
| NM_002641.3:c.1183G>A , LRG_160t1:c.1183G>A | NP_002632.1:p.Glu395Lys | |
| NM_020473.3:c.481G>A | NP_065206.3:p.Glu161Lys | |
| NR_033835.1:n.925G>A | ||
| NR_033836.1:n.641G>A | ||
| XM_011545539.1:c.490G>A | XP_011543841.1:p.Glu164Lys | |
| XM_011545539.2:c.490G>A | XP_011543841.1:p.Glu164Lys | |
| NM_002641.4:c.1183G>A MANE Select | NP_002632.1:p.Glu395Lys |