HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48875816C>T , CM000681.2:g.48875816C>T | GRCh38 |
NC_000019.9:g.49379073C>T , CM000681.1:g.49379073C>T | GRCh37 |
NC_000019.8:g.54070885C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600406.2:c.*723C>T | ENSP00000469239.2:n.*723C>T | |
ENST00000704026.1:c.1583C>T | ENSP00000515636.1:p.Pro528Leu | |
ENST00000704027.1:c.1916C>T | ENSP00000515637.1:p.Pro639Leu | |
ENST00000200453.6:c.1868C>T MANE Select | ENSP00000200453.4:p.Pro623Leu | |
ENST00000200453.5:c.1868C>T | ENSP00000200453.4:p.Pro623Leu | |
ENST00000600406.1:c.1499C>T | ||
NM_014330.3:c.1868C>T | NP_055145.3:p.Pro623Leu | |
NM_014330.5:c.1868C>T MANE Select | NP_055145.3:p.Pro623Leu |