HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616057C>T , CM000670.2:g.616057C>T | GRCh38 |
NC_000008.10:g.566057C>T , CM000670.1:g.566057C>T | GRCh37 |
NC_000008.9:g.556057C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-773G>A | ENSP00000428635.1:n.977-773G>A | |
ENST00000523415.5:c.2322G>A | ||
NM_001303100.1:c.*514G>A | NP_001290029.1:n.*514G>A | |
XM_011534732.1:c.1442-773G>A | XP_011533034.1:n.1442-773G>A | |
XM_011534735.1:c.*1949G>A | XP_011533037.1:n.*1949G>A | |
XM_011534735.3:c.*1949G>A | XP_011533037.1:n.*1949G>A | |
XM_017013124.2:c.1457-773G>A | XP_016868613.1:n.1457-773G>A | |
NM_001303100.2:c.*514G>A | NP_001290029.1:n.*514G>A |