HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942778C= , CM000678.2:g.67942778C= | GRCh38 |
NC_000016.9:g.67976681C= , CM000678.1:g.67976681C= | GRCh37 |
NC_000016.8:g.66534182C= | NCBI36 |
NG_009778.1:g.6335G= | |
NG_033098.1:g.30917G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.428-12G= MANE Select | ENSP00000264005.5:n.428-12G= | |
ENST00000264005.9:c.428-12G= | ENSP00000264005.5:n.428-12G= | |
ENST00000570369.5:c.155+83G= | ||
ENST00000570980.1:c.212-12G= | ENSP00000464651.1:n.212-12G= | |
ENST00000573538.5:c.71-12G= | ENSP00000463220.1:n.71-12G= | |
ENST00000573846.1:n.42-12G= | ||
ENST00000575277.1:n.206-12G= | ||
ENST00000575467.5:c.*123-12G= | ENSP00000460653.1:n.*123-12G= | |
NM_000229.1:c.428-12G= | NP_000220.1:n.428-12G= | |
NM_000229.2:c.428-12G= MANE Select | NP_000220.1:n.428-12G= |