HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67943006A= , CM000678.2:g.67943006A= | GRCh38 |
NC_000016.9:g.67976909A= , CM000678.1:g.67976909A= | GRCh37 |
NC_000016.8:g.66534410A= | NCBI36 |
NG_009778.1:g.6107T= | |
NG_033098.1:g.30689T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.312-30T= MANE Select | ENSP00000264005.5:n.312-30T= | |
ENST00000264005.9:c.312-30T= | ENSP00000264005.5:n.312-30T= | |
ENST00000570369.5:c.40-30T= | ||
ENST00000570980.1:c.96-30T= | ENSP00000464651.1:n.96-30T= | |
ENST00000575277.1:n.90-30T= | ||
ENST00000575467.5:c.*7-30T= | ENSP00000460653.1:n.*7-30T= | |
NM_000229.1:c.312-30T= | NP_000220.1:n.312-30T= | |
NM_000229.2:c.312-30T= MANE Select | NP_000220.1:n.312-30T= |