Linked Data
ClinVar Variation Id:
804024
ClinVar RCV Id:
RCV000990860
dbSNP Id:
rs776710796
ExAC:
X:70330516 T / C
gnomAD v2:
X-70330516-T-C
gnomAD v3:
X-71110666-T-C
gnomAD v4:
X-71110666-T-C
ERepo:
CA10443891/MONDO:0010315/129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110666T>C , CM000685.2:g.71110666T>C | GRCh38 |
| NC_000023.10:g.70330516T>C , CM000685.1:g.70330516T>C | GRCh37 |
| NC_000023.9:g.70247241T>C | NCBI36 |
| NG_009088.1:g.5888A>G , LRG_150:g.5888A>G | |
| NG_021141.1:g.1123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.292A>G | ENSP00000421262.2:p.Lys98Glu | |
| ENST00000696903.1:n.343A>G | ||
| ENST00000374202.7:c.292A>G MANE Select | ENSP00000363318.3:p.Lys98Glu | |
| ENST00000642473.1:n.656A>G | ||
| ENST00000644022.1:n.698A>G | ||
| ENST00000644708.1:n.698A>G | ||
| ENST00000644911.1:n.698A>G | ||
| ENST00000645266.1:c.292A>G | ENSP00000493734.1:p.Lys98Glu | |
| ENST00000645518.1:c.292A>G | ENSP00000493986.1:p.Lys98Glu | |
| ENST00000646106.1:c.292A>G | ENSP00000496437.1:p.Lys98Glu | |
| ENST00000646505.1:c.292A>G | ENSP00000496673.1:p.Lys98Glu | |
| ENST00000647492.1:c.292A>G | ENSP00000495340.1:p.Lys98Glu | |
| ENST00000276110.6:n.677A>G | ||
| ENST00000374188.7:c.-425A>G | ENSP00000363303.3:n.-425A>G | |
| ENST00000374202.6:c.292A>G | ENSP00000363318.2:p.Lys98Glu | |
| ENST00000456850.6:c.24+759A>G | ENSP00000388967.2:n.24+759A>G | |
| ENST00000464642.5:c.160A>G | ENSP00000425233.1:p.Lys54Glu | |
| ENST00000473378.1:c.229A>G | ENSP00000423601.1:p.Lys77Glu | |
| ENST00000487883.1:c.256A>G | ENSP00000423966.1:p.Lys86Glu | |
| ENST00000512747.3:n.359A>G | ||
| NM_000206.2:c.292A>G , LRG_150t1:c.292A>G | NP_000197.1:p.Lys98Glu | |
| NM_000206.3:c.292A>G MANE Select | NP_000197.1:p.Lys98Glu |