HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11309895C>G , CM000678.2:g.11309895C>G | GRCh38 |
NC_000016.9:g.11403752C>G , CM000678.1:g.11403752C>G | GRCh37 |
NC_000016.8:g.11311253C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649869.1:n.152+60117C>G | ||
ENST00000572173.1:c.-436-2934C>G | ENSP00000461206.1:n.-436-2934C>G | |
ENST00000573910.1:n.161-6557C>G | ||
XR_933070.1:n.733+60117C>G | ||
XR_933070.3:n.876+60117C>G |