HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37966227T>A , CM000670.2:g.37966227T>A | GRCh38 |
NC_000008.10:g.37823745T>A , CM000670.1:g.37823745T>A | GRCh37 |
NC_000008.9:g.37942902T>A | NCBI36 |
NG_011936.1:g.5440A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.243A>T MANE Select | ENSP00000343782.3:p.Ala81= | |
ENST00000520341.2:n.371A>T | ||
ENST00000345060.4:c.243A>T | ENSP00000343782.3:p.Ala81= | |
ENST00000614635.1:c.243A>T | ENSP00000480325.1:p.Ala81= | |
NM_000025.2:c.243A>T | NP_000016.1:p.Ala81= | |
NM_000025.3:c.243A>T MANE Select | NP_000016.1:p.Ala81= |