HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609348C>G , CM000678.2:g.56609348C>G | GRCh38 |
NC_000016.9:g.56643260C>G , CM000678.1:g.56643260C>G | GRCh37 |
NC_000016.8:g.55200761C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245185.6:c.180C>G MANE Select | ENSP00000245185.5:p.Cys60Trp | |
ENST00000245185.5:c.180C>G | ENSP00000245185.5:p.Cys60Trp | |
ENST00000561491.1:c.*163C>G | ENSP00000456804.1:n.*163C>G | |
ENST00000562017.1:n.754C>G | ||
ENST00000563985.1:n.560C>G | ||
ENST00000567300.1:n.267C>G | ||
NM_005953.3:c.180C>G | NP_005944.1:p.Cys60Trp | |
NM_005953.4:c.180C>G | NP_005944.1:p.Cys60Trp | |
NM_005953.5:c.180C>G MANE Select | NP_005944.1:p.Cys60Trp |