HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48875818T>C , CM000681.2:g.48875818T>C | GRCh38 |
NC_000019.9:g.49379075T>C , CM000681.1:g.49379075T>C | GRCh37 |
NC_000019.8:g.54070887T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600406.2:c.*725T>C | ENSP00000469239.2:n.*725T>C | |
ENST00000704026.1:c.1585T>C | ENSP00000515636.1:p.Leu529= | |
ENST00000704027.1:c.1918T>C | ENSP00000515637.1:p.Leu640= | |
ENST00000200453.6:c.1870T>C MANE Select | ENSP00000200453.4:p.Leu624= | |
ENST00000200453.5:c.1870T>C | ENSP00000200453.4:p.Leu624= | |
ENST00000600406.1:c.1501T>C | ||
NM_014330.3:c.1870T>C | NP_055145.3:p.Leu624= | |
NM_014330.5:c.1870T>C MANE Select | NP_055145.3:p.Leu624= |