Linked Data
ClinVar Variation Id:
9124
ClinVar RCV Id:
RCV000030888
dbSNP Id:
rs137852662
gnomAD v4:
10-101774771-T-C
PubMed:
PMID:18596921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101774771T>C , CM000672.2:g.101774771T>C | GRCh38 |
| NC_000010.10:g.103534528T>C , CM000672.1:g.103534528T>C | GRCh37 |
| NC_000010.9:g.103524518T>C | NCBI36 |
| NG_007151.1:g.6300A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320185.7:c.298A>G MANE Select | ENSP00000321797.2:p.Lys100Glu | |
| ENST00000618991.5:c.-15A>G | ENSP00000484420.1:n.-15A>G | |
| ENST00000344255.8:c.265A>G | ENSP00000340039.3:p.Lys89Glu | |
| ENST00000320185.6:c.298A>G | ENSP00000321797.2:p.Lys100Glu | |
| ENST00000344255.7:c.265A>G | ENSP00000340039.3:p.Lys89Glu | |
| ENST00000346714.7:c.178A>G | ENSP00000344306.3:p.Lys60Glu | |
| ENST00000347978.2:c.211A>G | ENSP00000321945.2:p.Lys71Glu | |
| ENST00000469792.6:c.*262A>G | ENSP00000473299.1:n.*262A>G | |
| ENST00000485728.1:n.174A>G | ||
| ENST00000618991.4:c.-15A>G | ENSP00000484420.1:n.-15A>G | |
| NM_001206389.1:c.-15A>G | NP_001193318.1:n.-15A>G | |
| NM_006119.4:c.211A>G | NP_006110.1:p.Lys71Glu | |
| NM_033163.3:c.298A>G | NP_149353.1:p.Lys100Glu | |
| NM_033164.3:c.265A>G | NP_149354.1:p.Lys89Glu | |
| NM_033165.3:c.178A>G | NP_149355.1:p.Lys60Glu | |
| XM_011539509.1:c.220A>G | XP_011537811.1:p.Lys74Glu | |
| NM_006119.5:c.211A>G | NP_006110.1:p.Lys71Glu | |
| NM_033163.4:c.298A>G | NP_149353.1:p.Lys100Glu | |
| NM_033164.4:c.265A>G | NP_149354.1:p.Lys89Glu | |
| NM_033165.4:c.178A>G | NP_149355.1:p.Lys60Glu | |
| NM_001206389.2:c.-15A>G | NP_001193318.1:n.-15A>G | |
| NM_006119.6:c.211A>G | NP_006110.1:p.Lys71Glu | |
| NM_033163.5:c.298A>G MANE Select | NP_149353.1:p.Lys100Glu | |
| NM_033165.5:c.178A>G | NP_149355.1:p.Lys60Glu |