HGVS | Genome Assembly |
---|---|
NC_000010.11:g.8047109A>C , CM000672.2:g.8047109A>C | GRCh38 |
NC_000010.10:g.8089072A>C , CM000672.1:g.8089072A>C | GRCh37 |
NC_000010.9:g.8129078A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643001.1:c.-370+1594A>C | ENSP00000494284.1:n.-370+1594A>C | |
XM_005252443.3:c.-370+1594A>C | XP_005252500.1:n.-370+1594A>C | |
XM_011519800.1:c.213+70A>C | XP_011518102.1:n.213+70A>C | |
XM_005252443.5:c.-370+1594A>C | XP_005252500.1:n.-370+1594A>C |