Linked Data
ClinVar Variation Id:
368051
ClinVar RCV Id:
RCV000323903
dbSNP Id:
rs781793261
ExAC:
X:153008995 G / C
gnomAD v2:
X-153008995-G-C
gnomAD v3:
X-153743541-G-C
gnomAD v4:
X-153743541-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743541G>C , CM000685.2:g.153743541G>C | GRCh38 |
| NC_000023.10:g.153008995G>C , CM000685.1:g.153008995G>C | GRCh37 |
| NC_000023.9:g.152662189G>C | NCBI36 |
| NG_009022.2:g.23674G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.2044G>C MANE Select | ENSP00000218104.3:p.Glu682Gln | |
| ENST00000218104.5:c.2044G>C | ENSP00000218104.3:p.Glu682Gln | |
| NM_000033.3:c.2044G>C | NP_000024.2:p.Glu682Gln | |
| XR_938507.1:n.2516G>C | ||
| XR_938507.2:n.2516G>C | ||
| NM_000033.4:c.2044G>C MANE Select | NP_000024.2:p.Glu682Gln |