HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616083C= , CM000670.2:g.616083C= | GRCh38 |
NC_000008.10:g.566083C= , CM000670.1:g.566083C= | GRCh37 |
NC_000008.9:g.556083C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-799G= | ENSP00000428635.1:n.977-799G= | |
ENST00000523415.5:c.2296G= | ||
NM_001303100.1:c.*488G= | NP_001290029.1:n.*488G= | |
XM_011534732.1:c.1442-799G= | XP_011533034.1:n.1442-799G= | |
XM_011534735.1:c.*1923G= | XP_011533037.1:n.*1923G= | |
XM_011534735.3:c.*1923G= | XP_011533037.1:n.*1923G= | |
XM_017013124.2:c.1457-799G= | XP_016868613.1:n.1457-799G= | |
NM_001303100.2:c.*488G= | NP_001290029.1:n.*488G= |