Linked Data
ClinVar Variation Id:
10494
ClinVar RCV Id:
RCV000011240
dbSNP Id:
rs104894861
PubMed:
PMID:1303211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149503326T>C , CM000685.2:g.149503326T>C | GRCh38 |
| NC_000023.10:g.148584856T>C , CM000685.1:g.148584856T>C | GRCh37 |
| NC_000023.9:g.148392761T>C | NCBI36 |
| NG_011900.3:g.7009A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.404A>G MANE Select | ENSP00000339801.6:p.Lys135Arg | |
| ENST00000651111.1:c.-215-2289A>G | ENSP00000498395.1:n.-215-2289A>G | |
| ENST00000340855.10:c.404A>G | ENSP00000339801.6:p.Lys135Arg | |
| ENST00000370441.8:c.404A>G | ENSP00000359470.4:p.Lys135Arg | |
| ENST00000422081.6:c.-215-2289A>G | ENSP00000477056.1:n.-215-2289A>G | |
| ENST00000427113.2:n.770-1103A>G | ||
| ENST00000428056.6:c.404A>G | ENSP00000390241.2:p.Lys135Arg | |
| ENST00000441880.1:n.114-16228A>G | ||
| ENST00000464251.5:c.227A>G | ENSP00000428980.1:p.Lys76Arg | |
| ENST00000466323.5:c.404A>G | ENSP00000418264.1:p.Lys135Arg | |
| ENST00000490775.5:n.63A>G | ||
| ENST00000523759.5:n.533-2289A>G | ||
| NM_000202.6:c.404A>G | NP_000193.1:p.Lys135Arg | |
| NM_001166550.2:c.134A>G | NP_001160022.1:p.Lys45Arg | |
| NM_006123.4:c.404A>G | NP_006114.1:p.Lys135Arg | |
| NR_104128.1:n.621A>G | ||
| NM_000202.7:c.404A>G | NP_000193.1:p.Lys135Arg | |
| NM_001166550.3:c.134A>G | NP_001160022.1:p.Lys45Arg | |
| NM_000202.8:c.404A>G MANE Select | NP_000193.1:p.Lys135Arg | |
| NM_001166550.4:c.134A>G | NP_001160022.1:p.Lys45Arg | |
| NM_006123.5:c.404A>G | NP_006114.1:p.Lys135Arg | |
| NR_104128.2:n.573A>G |