HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616044C>A , CM000670.2:g.616044C>A | GRCh38 |
NC_000008.10:g.566044C>A , CM000670.1:g.566044C>A | GRCh37 |
NC_000008.9:g.556044C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-760G>T | ENSP00000428635.1:n.977-760G>T | |
ENST00000523415.5:c.2335G>T | ||
NM_001303100.1:c.*527G>T | NP_001290029.1:n.*527G>T | |
XM_011534732.1:c.1442-760G>T | XP_011533034.1:n.1442-760G>T | |
XM_011534735.1:c.*1962G>T | XP_011533037.1:n.*1962G>T | |
XM_011534735.3:c.*1962G>T | XP_011533037.1:n.*1962G>T | |
XM_017013124.2:c.1457-760G>T | XP_016868613.1:n.1457-760G>T | |
NM_001303100.2:c.*527G>T | NP_001290029.1:n.*527G>T |