HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616221C>A , CM000670.2:g.616221C>A | GRCh38 |
NC_000008.10:g.566221C>A , CM000670.1:g.566221C>A | GRCh37 |
NC_000008.9:g.556221C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000522706.5:c.977-937G>T | ENSP00000428635.1:n.977-937G>T | |
ENST00000523415.5:c.2158G>T | ||
NM_001303100.1:c.*350G>T | NP_001290029.1:n.*350G>T | |
XM_011534732.1:c.1442-937G>T | XP_011533034.1:n.1442-937G>T | |
XM_011534735.1:c.*1785G>T | XP_011533037.1:n.*1785G>T | |
XM_011534735.3:c.*1785G>T | XP_011533037.1:n.*1785G>T | |
XM_017013124.2:c.1457-937G>T | XP_016868613.1:n.1457-937G>T | |
NM_001303100.2:c.*350G>T | NP_001290029.1:n.*350G>T |