HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319040G>A , CM000673.2:g.6319040G>A | GRCh38 |
NC_000011.9:g.6340270G>A , CM000673.1:g.6340270G>A | GRCh37 |
NC_000011.8:g.6296846G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.*123C>T MANE Select | ENSP00000307292.3:n.*123C>T | |
ENST00000303927.3:c.*123C>T | ENSP00000307292.3:n.*123C>T | |
ENST00000532354.1:n.931C>T | ||
NM_145040.2:c.*123C>T | NP_659477.2:n.*123C>T | |
XR_930997.1:n.720+820G>A | ||
NM_145040.3:c.*123C>T MANE Select | NP_659477.2:n.*123C>T |