HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37966234A>T , CM000670.2:g.37966234A>T | GRCh38 |
NC_000008.10:g.37823752A>T , CM000670.1:g.37823752A>T | GRCh37 |
NC_000008.9:g.37942909A>T | NCBI36 |
NG_011936.1:g.5433T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.236T>A MANE Select | ENSP00000343782.3:p.Leu79Gln | |
ENST00000520341.2:n.364T>A | ||
ENST00000345060.4:c.236T>A | ENSP00000343782.3:p.Leu79Gln | |
ENST00000614635.1:c.236T>A | ENSP00000480325.1:p.Leu79Gln | |
NM_000025.2:c.236T>A | NP_000016.1:p.Leu79Gln | |
NM_000025.3:c.236T>A MANE Select | NP_000016.1:p.Leu79Gln |