HGVS | Genome Assembly |
---|---|
NC_000008.11:g.615798G>T , CM000670.2:g.615798G>T | GRCh38 |
NC_000008.10:g.565798G>T , CM000670.1:g.565798G>T | GRCh37 |
NC_000008.9:g.555798G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522706.5:c.977-514C>A | ENSP00000428635.1:n.977-514C>A | |
ENST00000523415.5:c.2581C>A | ||
NM_001303100.1:c.*773C>A | NP_001290029.1:n.*773C>A | |
XM_011534732.1:c.1442-514C>A | XP_011533034.1:n.1442-514C>A | |
XM_011534735.1:c.*2208C>A | XP_011533037.1:n.*2208C>A | |
XM_011534735.3:c.*2208C>A | XP_011533037.1:n.*2208C>A | |
XM_017013124.2:c.1457-514C>A | XP_016868613.1:n.1457-514C>A | |
NM_001303100.2:c.*773C>A | NP_001290029.1:n.*773C>A |