HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7502537G>T , CM000679.2:g.7502537G>T | GRCh38 |
NC_000017.10:g.7405856G>T , CM000679.1:g.7405856G>T | GRCh37 |
NC_000017.9:g.7346580G>T | NCBI36 |
NG_027747.1:g.23159G>T | |
NG_027747.2:g.23159G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617998.6:n.2991G>T | ||
ENST00000674977.2:c.2592G>T | ENSP00000502190.2:p.Leu864= | |
ENST00000576114.1:n.58G>T | ||
ENST00000617998.4:c.2592G>T | ENSP00000480158.1:p.Leu864= | |
ENST00000621442.4:c.2592G>T | ENSP00000483957.1:p.Leu864= | |
NM_000937.4:c.2592G>T | NP_000928.1:p.Leu864= | |
NM_000937.5:c.2592G>T MANE Select | NP_000928.1:p.Leu864= |