HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65239955C= , CM000674.2:g.65239955C= | GRCh38 |
NC_000012.11:g.65633735C= , CM000674.1:g.65633735C= | GRCh37 |
NC_000012.10:g.63920002C= | NCBI36 |
NG_016210.1:g.75385C= | |
NG_016210.2:g.75385C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1948C= MANE Select | ENSP00000308369.2:p.Arg650= | |
ENST00000308330.2:c.1948C= | ENSP00000308369.2:p.Arg650= | |
NM_001167614.1:c.1945C= | NP_001161086.1:p.Arg649= | |
NM_014319.4:c.1948C= | NP_055134.2:p.Arg650= | |
NM_014319.5:c.1948C= MANE Select | NP_055134.2:p.Arg650= | |
NM_001167614.2:c.1945C= | NP_001161086.1:p.Arg649= |