HGVS | Genome Assembly |
---|---|
NC_000007.14:g.141927356G>A , CM000669.2:g.141927356G>A | GRCh38 |
NC_000007.13:g.141627156G>A , CM000669.1:g.141627156G>A | GRCh37 |
NC_000007.12:g.141273625G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000465654.5:c.-179-18465G>A (MGAM) | ENSP00000419372.1:n.-179-18465G>A | |
ENST00000497554.1:n.37-2421G>A (MGAM) | ||
XM_011515783.1:c.*24+7512G>A (OR9A4) | XP_011514085.1:n.*24+7512G>A | |
XM_011515995.2:c.*2748C>T (CLEC5A) | XP_011514297.1:n.*2748C>T | |
XM_017011915.1:c.*2748C>T (CLEC5A) | XP_016867404.1:n.*2748C>T | |
XM_017011917.1:c.*2816C>T (CLEC5A) | XP_016867406.1:n.*2816C>T |