HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609472A= , CM000678.2:g.56609472A= | GRCh38 |
NC_000016.9:g.56643384A= , CM000678.1:g.56643384A= | GRCh37 |
NC_000016.8:g.55200885A= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245185.6:c.*118A= MANE Select | ENSP00000245185.5:n.*118A= | |
ENST00000245185.5:c.*118A= | ENSP00000245185.5:n.*118A= | |
ENST00000561491.1:c.*287A= | ENSP00000456804.1:n.*287A= | |
ENST00000562017.1:n.878A= | ||
ENST00000563985.1:n.684A= | ||
ENST00000567300.1:n.391A= | ||
NM_005953.3:c.*118A= | NP_005944.1:n.*118A= | |
XR_933616.1:n.1018T= | ||
NM_005953.4:c.*118A= | NP_005944.1:n.*118A= | |
NM_005953.5:c.*118A= MANE Select | NP_005944.1:n.*118A= |