HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616089A>G , CM000670.2:g.616089A>G | GRCh38 |
NC_000008.10:g.566089A>G , CM000670.1:g.566089A>G | GRCh37 |
NC_000008.9:g.556089A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-805T>C | ENSP00000428635.1:n.977-805T>C | |
ENST00000523415.5:c.2290T>C | ||
NM_001303100.1:c.*482T>C | NP_001290029.1:n.*482T>C | |
XM_011534732.1:c.1442-805T>C | XP_011533034.1:n.1442-805T>C | |
XM_011534735.1:c.*1917T>C | XP_011533037.1:n.*1917T>C | |
XM_011534735.3:c.*1917T>C | XP_011533037.1:n.*1917T>C | |
XM_017013124.2:c.1457-805T>C | XP_016868613.1:n.1457-805T>C | |
NM_001303100.2:c.*482T>C | NP_001290029.1:n.*482T>C |