HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19577792T>C , CM000686.2:g.19577792T>C | GRCh38 |
NC_000024.9:g.21739678T>C , CM000686.1:g.21739678T>C | GRCh37 |
NC_000024.8:g.20199066T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.200-9418T>C | ||
ENST00000686905.1:n.134-9418T>C | ||
ENST00000693214.1:n.222-9418T>C | ||
ENST00000445715.6:n.102-9418T>C | ||
ENST00000407724.7:n.171-9418T>C | ||
ENST00000445715.5:n.102-9418T>C | ||
ENST00000447202.2:n.124-9418T>C | ||
ENST00000447520.5:n.102-9418T>C | ||
ENST00000459719.6:n.222-9418T>C | ||
ENST00000538014.2:n.240+8333T>C | ||
NR_045128.1:n.126-9418T>C | ||
NR_045129.1:n.126-9418T>C |