HGVS | Genome Assembly |
---|---|
NC_000008.11:g.616077A>C , CM000670.2:g.616077A>C | GRCh38 |
NC_000008.10:g.566077A>C , CM000670.1:g.566077A>C | GRCh37 |
NC_000008.9:g.556077A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-793T>G | ENSP00000428635.1:n.977-793T>G | |
ENST00000523415.5:c.2302T>G | ||
NM_001303100.1:c.*494T>G | NP_001290029.1:n.*494T>G | |
XM_011534732.1:c.1442-793T>G | XP_011533034.1:n.1442-793T>G | |
XM_011534735.1:c.*1929T>G | XP_011533037.1:n.*1929T>G | |
XM_011534735.3:c.*1929T>G | XP_011533037.1:n.*1929T>G | |
XM_017013124.2:c.1457-793T>G | XP_016868613.1:n.1457-793T>G | |
NM_001303100.2:c.*494T>G | NP_001290029.1:n.*494T>G |