Linked Data
dbSNP Id:
rs782031759
gnomAD v2:
X-153002267-A-G
gnomAD v3:
X-153736813-A-G
gnomAD v4:
X-153736813-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736813A>G , CM000685.2:g.153736813A>G | GRCh38 |
| NC_000023.10:g.153002267A>G , CM000685.1:g.153002267A>G | GRCh37 |
| NC_000023.9:g.152655461A>G | NCBI36 |
| NG_009022.2:g.16946A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1393+300A>G MANE Select | ENSP00000218104.3:n.1393+300A>G | |
| ENST00000218104.5:c.1393+300A>G | ENSP00000218104.3:n.1393+300A>G | |
| ENST00000443684.2:n.396+300A>G | ||
| NM_000033.3:c.1393+300A>G | NP_000024.2:n.1393+300A>G | |
| XR_938507.1:n.1810-43A>G | ||
| XR_938507.2:n.1810-43A>G | ||
| NM_000033.4:c.1393+300A>G MANE Select | NP_000024.2:n.1393+300A>G |