HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169487820T>C , CM000664.2:g.169487820T>C | GRCh38 |
NC_000002.11:g.170344330T>C , CM000664.1:g.170344330T>C | GRCh37 |
NC_000002.10:g.170052576T>C | NCBI36 |
NG_011567.1:g.13325T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.223T>C MANE Select | ENSP00000295240.3:p.Cys75Arg | |
ENST00000295240.7:c.223T>C | ENSP00000295240.3:p.Cys75Arg | |
ENST00000392663.6:c.223T>C | ENSP00000376431.2:p.Cys75Arg | |
ENST00000443151.1:c.143-167T>C | ENSP00000406182.1:n.143-167T>C | |
ENST00000475571.1:n.59T>C | ||
ENST00000513963.1:c.223T>C | ENSP00000424363.1:p.Cys75Arg | |
NM_152384.2:c.223T>C | NP_689597.1:p.Cys75Arg | |
NM_152384.3:c.223T>C MANE Select | NP_689597.1:p.Cys75Arg |