HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942825A= , CM000678.2:g.67942825A= | GRCh38 |
NC_000016.9:g.67976728A= , CM000678.1:g.67976728A= | GRCh37 |
NC_000016.8:g.66534229A= | NCBI36 |
NG_009778.1:g.6288T= | |
NG_033098.1:g.30870T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.427+36T= MANE Select | ENSP00000264005.5:n.427+36T= | |
ENST00000264005.9:c.427+36T= | ENSP00000264005.5:n.427+36T= | |
ENST00000570369.5:c.155+36T= | ||
ENST00000570980.1:c.211+36T= | ENSP00000464651.1:n.211+36T= | |
ENST00000573538.5:c.70+36T= | ENSP00000463220.1:n.70+36T= | |
ENST00000573846.1:n.41+36T= | ||
ENST00000575277.1:n.205+36T= | ||
ENST00000575467.5:c.*122+36T= | ENSP00000460653.1:n.*122+36T= | |
NM_000229.1:c.427+36T= | NP_000220.1:n.427+36T= | |
NM_000229.2:c.427+36T= MANE Select | NP_000220.1:n.427+36T= |