Linked Data
ClinVar Variation Id:
9020
ClinVar RCV Id:
RCV000009586
dbSNP Id:
rs137852686
PubMed:
PMID:15917268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232997T>C , CM000667.2:g.173232997T>C | GRCh38 |
| NC_000005.9:g.172660000T>C , CM000667.1:g.172660000T>C | GRCh37 |
| NC_000005.8:g.172592606T>C | NCBI36 |
| NG_013340.1:g.7316A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329198.5:c.547A>G MANE Select | ENSP00000327758.4:p.Lys183Glu | |
| ENST00000329198.4:c.547A>G | ENSP00000327758.4:p.Lys183Glu | |
| ENST00000424406.2:c.*500A>G | ENSP00000395378.2:n.*500A>G | |
| ENST00000521848.1:c.*346A>G | ENSP00000427906.1:n.*346A>G | |
| NM_001166175.1:c.*500A>G | NP_001159647.1:n.*500A>G | |
| NM_001166176.1:c.*346A>G | NP_001159648.1:n.*346A>G | |
| NM_004387.3:c.547A>G | NP_004378.1:p.Lys183Glu | |
| NM_004387.4:c.547A>G MANE Select | NP_004378.1:p.Lys183Glu | |
| NM_001166175.2:c.*500A>G | NP_001159647.1:n.*500A>G | |
| NM_001166176.2:c.*346A>G | NP_001159648.1:n.*346A>G |