Linked Data
ClinVar Variation Id:
2911467
ClinVar RCV Id:
RCV003624954
dbSNP Id:
rs782518797
gnomAD v2:
X-153001577-G-C
gnomAD v3:
X-153736123-G-C
gnomAD v4:
X-153736123-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736123G>C , CM000685.2:g.153736123G>C | GRCh38 |
| NC_000023.10:g.153001577G>C , CM000685.1:g.153001577G>C | GRCh37 |
| NC_000023.9:g.152654771G>C | NCBI36 |
| NG_009022.2:g.16256G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1093G>C MANE Select | ENSP00000218104.3:p.Val365Leu | |
| ENST00000218104.5:c.1093G>C | ENSP00000218104.3:p.Val365Leu | |
| ENST00000443684.2:n.96G>C | ||
| NM_000033.3:c.1093G>C | NP_000024.2:p.Val365Leu | |
| XR_938507.1:n.1509G>C | ||
| XR_938507.2:n.1509G>C | ||
| NM_000033.4:c.1093G>C MANE Select | NP_000024.2:p.Val365Leu |