HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19574476A>G , CM000686.2:g.19574476A>G | GRCh38 |
NC_000024.9:g.21736362A>G , CM000686.1:g.21736362A>G | GRCh37 |
NC_000024.8:g.20195750A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.199+6906A>G | ||
ENST00000686905.1:n.133+6994A>G | ||
ENST00000693214.1:n.221+6906A>G | ||
ENST00000445715.6:n.101+6994A>G | ||
ENST00000407724.7:n.170+6994A>G | ||
ENST00000445715.5:n.101+6994A>G | ||
ENST00000447202.2:n.123+6525A>G | ||
ENST00000447520.5:n.101+6994A>G | ||
ENST00000459719.6:n.221+6906A>G | ||
ENST00000538014.2:n.240+5017A>G | ||
NR_045128.1:n.125+6994A>G | ||
NR_045129.1:n.125+6994A>G |