HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147491600T= , CM000669.2:g.147491600T= | GRCh38 |
NC_000007.13:g.147188692T= , CM000669.1:g.147188692T= | GRCh37 |
NC_000007.12:g.146819625T= | NCBI36 |
NG_007092.2:g.1380240T= | |
NG_007092.3:g.1380600T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.1777+5559T= MANE Select | ENSP00000354778.3:n.1777+5559T= | |
ENST00000636870.1:n.1639+5559T= | ||
ENST00000637694.1:n.1681-5021T= | ||
ENST00000637825.1:n.1260+5559T= | ||
ENST00000638117.1:n.1680+5559T= | ||
ENST00000361727.7:c.1777+5559T= | ENSP00000354778.3:n.1777+5559T= | |
NM_014141.5:c.1777+5559T= | NP_054860.1:n.1777+5559T= | |
XM_006715919.1:c.265+5559T= | XP_006715982.1:n.265+5559T= | |
XM_017011950.2:c.1777+5559T= | XP_016867439.1:n.1777+5559T= | |
NM_014141.6:c.1777+5559T= MANE Select | NP_054860.1:n.1777+5559T= |