HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19577803A>C , CM000686.2:g.19577803A>C | GRCh38 |
NC_000024.9:g.21739689A>C , CM000686.1:g.21739689A>C | GRCh37 |
NC_000024.8:g.20199077A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000686158.1:n.200-9407A>C | ||
ENST00000686905.1:n.134-9407A>C | ||
ENST00000693214.1:n.222-9407A>C | ||
ENST00000445715.6:n.102-9407A>C | ||
ENST00000407724.7:n.171-9407A>C | ||
ENST00000445715.5:n.102-9407A>C | ||
ENST00000447202.2:n.124-9407A>C | ||
ENST00000447520.5:n.102-9407A>C | ||
ENST00000459719.6:n.222-9407A>C | ||
ENST00000538014.2:n.240+8344A>C | ||
NR_045128.1:n.126-9407A>C | ||
NR_045129.1:n.126-9407A>C |