HGVS | Genome Assembly |
---|---|
NC_000013.11:g.47813587C>T , CM000675.2:g.47813587C>T | GRCh38 |
NC_000013.10:g.48387722C>T , CM000675.1:g.48387722C>T | GRCh37 |
NC_000013.9:g.47285723C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643584.1:c.*215-66163G>A | ENSP00000494987.1:n.*215-66163G>A | |
ENST00000647008.1:n.1238-6088G>A |