HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19577742A>G , CM000686.2:g.19577742A>G | GRCh38 |
NC_000024.9:g.21739628A>G , CM000686.1:g.21739628A>G | GRCh37 |
NC_000024.8:g.20199016A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.200-9468A>G | ||
ENST00000686905.1:n.134-9468A>G | ||
ENST00000693214.1:n.222-9468A>G | ||
ENST00000445715.6:n.102-9468A>G | ||
ENST00000407724.7:n.171-9468A>G | ||
ENST00000445715.5:n.102-9468A>G | ||
ENST00000447202.2:n.124-9468A>G | ||
ENST00000447520.5:n.102-9468A>G | ||
ENST00000459719.6:n.222-9468A>G | ||
ENST00000538014.2:n.240+8283A>G | ||
NR_045128.1:n.126-9468A>G | ||
NR_045129.1:n.126-9468A>G |