HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616033T>G , CM000670.2:g.616033T>G | GRCh38 |
NC_000008.10:g.566033T>G , CM000670.1:g.566033T>G | GRCh37 |
NC_000008.9:g.556033T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-749A>C | ENSP00000428635.1:n.977-749A>C | |
ENST00000523415.5:c.2346A>C | ||
NM_001303100.1:c.*538A>C | NP_001290029.1:n.*538A>C | |
XM_011534732.1:c.1442-749A>C | XP_011533034.1:n.1442-749A>C | |
XM_011534735.1:c.*1973A>C | XP_011533037.1:n.*1973A>C | |
XM_011534735.3:c.*1973A>C | XP_011533037.1:n.*1973A>C | |
XM_017013124.2:c.1457-749A>C | XP_016868613.1:n.1457-749A>C | |
NM_001303100.2:c.*538A>C | NP_001290029.1:n.*538A>C |