HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736743C>G , CM000685.2:g.153736743C>G | GRCh38 |
NC_000023.10:g.153002197C>G , CM000685.1:g.153002197C>G | GRCh37 |
NC_000023.9:g.152655391C>G | NCBI36 |
NG_009022.2:g.16876C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1393+230C>G MANE Select | ENSP00000218104.3:n.1393+230C>G | |
ENST00000218104.5:c.1393+230C>G | ENSP00000218104.3:n.1393+230C>G | |
ENST00000443684.2:n.396+230C>G | ||
NM_000033.3:c.1393+230C>G | NP_000024.2:n.1393+230C>G | |
XR_938507.1:n.1810-113C>G | ||
XR_938507.2:n.1810-113C>G | ||
NM_000033.4:c.1393+230C>G MANE Select | NP_000024.2:n.1393+230C>G |