HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65239957T>G , CM000674.2:g.65239957T>G | GRCh38 |
NC_000012.11:g.65633737T>G , CM000674.1:g.65633737T>G | GRCh37 |
NC_000012.10:g.63920004T>G | NCBI36 |
NG_016210.1:g.75387T>G | |
NG_016210.2:g.75387T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1950T>G MANE Select | ENSP00000308369.2:p.Arg650= | |
ENST00000308330.2:c.1950T>G | ENSP00000308369.2:p.Arg650= | |
NM_001167614.1:c.1947T>G | NP_001161086.1:p.Arg649= | |
NM_014319.4:c.1950T>G | NP_055134.2:p.Arg650= | |
NM_014319.5:c.1950T>G MANE Select | NP_055134.2:p.Arg650= | |
NM_001167614.2:c.1947T>G | NP_001161086.1:p.Arg649= |