HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147882539C= , CM000669.2:g.147882539C= | GRCh38 |
NC_000007.13:g.147579631C= , CM000669.1:g.147579631C= | GRCh37 |
NC_000007.12:g.147210564C= | NCBI36 |
NG_007092.2:g.1771179C= | |
NG_007092.3:g.1771539C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.2099-21026C= MANE Select | ENSP00000354778.3:n.2099-21026C= | |
ENST00000636870.1:n.1961-21026C= | ||
ENST00000637825.1:n.1582-21026C= | ||
ENST00000361727.7:c.2099-21026C= | ENSP00000354778.3:n.2099-21026C= | |
ENST00000455301.2:n.34-21026C= | ||
ENST00000627772.2:n.272-21026C= | ||
NM_014141.5:c.2099-21026C= | NP_054860.1:n.2099-21026C= | |
XM_006715919.1:c.587-21026C= | XP_006715982.1:n.587-21026C= | |
NM_014141.6:c.2099-21026C= MANE Select | NP_054860.1:n.2099-21026C= |