Linked Data
ClinVar Variation Id:
2306120
ClinVar RCV Id:
RCV004149238
dbSNP Id:
rs761764824
ExAC:
X:75004019 C / T
gnomAD v2:
X-75004019-C-T
gnomAD v3:
X-75784184-C-T
gnomAD v4:
X-75784184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75784184C>T , CM000685.2:g.75784184C>T | GRCh38 |
| NC_000023.10:g.75004019C>T , CM000685.1:g.75004019C>T | GRCh37 |
| NC_000023.9:g.74920744C>T | NCBI36 |
| NG_021324.1:g.6061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373359.4:c.868G>A MANE Select | ENSP00000362457.2:p.Glu290Lys | |
| ENST00000373359.3:c.868G>A | ENSP00000362457.2:p.Glu290Lys | |
| NM_138703.4:c.868G>A | NP_619648.1:p.Glu290Lys | |
| XR_001755892.1:n.449-7108C>T | ||
| XR_001755894.1:n.449-7498C>T | ||
| NM_138703.5:c.868G>A MANE Select | NP_619648.1:p.Glu290Lys |