HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48875821G= , CM000681.2:g.48875821G= | GRCh38 |
NC_000019.9:g.49379078G= , CM000681.1:g.49379078G= | GRCh37 |
NC_000019.8:g.54070890G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600406.2:c.*728G= | ENSP00000469239.2:n.*728G= | |
ENST00000704026.1:c.1588G= | ENSP00000515636.1:p.Ala530= | |
ENST00000704027.1:c.1921G= | ENSP00000515637.1:p.Ala641= | |
ENST00000200453.6:c.1873G= MANE Select | ENSP00000200453.4:p.Ala625= | |
ENST00000200453.5:c.1873G= | ENSP00000200453.4:p.Ala625= | |
ENST00000600406.1:c.1504G= | ||
NM_014330.3:c.1873G= | NP_055145.3:p.Ala625= | |
NM_014330.5:c.1873G= MANE Select | NP_055145.3:p.Ala625= |