HGVS | Genome Assembly |
---|---|
NC_000008.11:g.615852C>A , CM000670.2:g.615852C>A | GRCh38 |
NC_000008.10:g.565852C>A , CM000670.1:g.565852C>A | GRCh37 |
NC_000008.9:g.555852C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-568G>T | ENSP00000428635.1:n.977-568G>T | |
ENST00000523415.5:c.2527G>T | ||
NM_001303100.1:c.*719G>T | NP_001290029.1:n.*719G>T | |
XM_011534732.1:c.1442-568G>T | XP_011533034.1:n.1442-568G>T | |
XM_011534735.1:c.*2154G>T | XP_011533037.1:n.*2154G>T | |
XM_011534735.3:c.*2154G>T | XP_011533037.1:n.*2154G>T | |
XM_017013124.2:c.1457-568G>T | XP_016868613.1:n.1457-568G>T | |
NM_001303100.2:c.*719G>T | NP_001290029.1:n.*719G>T |