HGVS | Genome Assembly |
---|---|
NC_000010.11:g.8047108C>T , CM000672.2:g.8047108C>T | GRCh38 |
NC_000010.10:g.8089071C>T , CM000672.1:g.8089071C>T | GRCh37 |
NC_000010.9:g.8129077C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643001.1:c.-370+1593C>T | ENSP00000494284.1:n.-370+1593C>T | |
XM_005252443.3:c.-370+1593C>T | XP_005252500.1:n.-370+1593C>T | |
XM_011519800.1:c.213+69C>T | XP_011518102.1:n.213+69C>T | |
XM_005252443.5:c.-370+1593C>T | XP_005252500.1:n.-370+1593C>T |