HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116830636C>G , CM000673.2:g.116830636C>G | GRCh38 |
NC_000011.9:g.116701352C>G , CM000673.1:g.116701352C>G | GRCh37 |
NC_000011.8:g.116206562C>G | NCBI36 |
NG_008949.1:g.5729C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.54C>G MANE Select | ENSP00000227667.2:p.Ala18= | |
ENST00000227667.7:c.54C>G | ENSP00000227667.2:p.Ala18= | |
ENST00000375345.3:c.108C>G | ENSP00000364494.1:p.Ala36= | |
ENST00000433777.5:c.54C>G | ENSP00000410614.1:p.Ala18= | |
ENST00000470144.1:n.86C>G | ||
ENST00000630701.1:c.108C>G | ENSP00000486182.1:p.Ala36= | |
NM_000040.1:c.54C>G | NP_000031.1:p.Ala18= | |
NM_000040.2:c.54C>G | NP_000031.1:p.Ala18= | |
NM_000040.3:c.54C>G MANE Select | NP_000031.1:p.Ala18= |