HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48875817T>C , CM000681.2:g.48875817T>C | GRCh38 |
NC_000019.9:g.49379074T>C , CM000681.1:g.49379074T>C | GRCh37 |
NC_000019.8:g.54070886T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600406.2:c.*724T>C | ENSP00000469239.2:n.*724T>C | |
ENST00000704026.1:c.1584T>C | ENSP00000515636.1:p.Pro528= | |
ENST00000704027.1:c.1917T>C | ENSP00000515637.1:p.Pro639= | |
ENST00000200453.6:c.1869T>C MANE Select | ENSP00000200453.4:p.Pro623= | |
ENST00000200453.5:c.1869T>C | ENSP00000200453.4:p.Pro623= | |
ENST00000600406.1:c.1500T>C | ||
NM_014330.3:c.1869T>C | NP_055145.3:p.Pro623= | |
NM_014330.5:c.1869T>C MANE Select | NP_055145.3:p.Pro623= |