Linked Data
ClinVar Variation Id:
1557839
ClinVar RCV Id:
RCV002197373
dbSNP Id:
rs1427008949
gnomAD v2:
X-153008435-G-A
gnomAD v3:
X-153742981-G-A
gnomAD v4:
X-153742981-G-A
COSMIC:
COSM4961676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153742981G>A , CM000685.2:g.153742981G>A | GRCh38 |
| NC_000023.10:g.153008435G>A , CM000685.1:g.153008435G>A | GRCh37 |
| NC_000023.9:g.152661629G>A | NCBI36 |
| NG_009022.2:g.23114G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1781-6G>A MANE Select | ENSP00000218104.3:n.1781-6G>A | |
| ENST00000218104.5:c.1781-6G>A | ENSP00000218104.3:n.1781-6G>A | |
| NM_000033.3:c.1781-6G>A | NP_000024.2:n.1781-6G>A | |
| XR_938507.1:n.2253-6G>A | ||
| XR_938507.2:n.2253-6G>A | ||
| NM_000033.4:c.1781-6G>A MANE Select | NP_000024.2:n.1781-6G>A |