HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48875818T>A , CM000681.2:g.48875818T>A | GRCh38 |
NC_000019.9:g.49379075T>A , CM000681.1:g.49379075T>A | GRCh37 |
NC_000019.8:g.54070887T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600406.2:c.*725T>A | ENSP00000469239.2:n.*725T>A | |
ENST00000704026.1:c.1585T>A | ENSP00000515636.1:p.Leu529Ile | |
ENST00000704027.1:c.1918T>A | ENSP00000515637.1:p.Leu640Ile | |
ENST00000200453.6:c.1870T>A MANE Select | ENSP00000200453.4:p.Leu624Ile | |
ENST00000200453.5:c.1870T>A | ENSP00000200453.4:p.Leu624Ile | |
ENST00000600406.1:c.1501T>A | ||
NM_014330.3:c.1870T>A | NP_055145.3:p.Leu624Ile | |
NM_014330.5:c.1870T>A MANE Select | NP_055145.3:p.Leu624Ile |