HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128317520G= , CM000667.2:g.128317520G= | GRCh38 |
NC_000005.9:g.127653212G= , CM000667.1:g.127653212G= | GRCh37 |
NC_000005.8:g.127681111G= | NCBI36 |
NG_008750.1:g.225524C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.1501+629C= | ||
ENST00000703785.1:n.1582+629C= | ||
ENST00000262464.9:c.4717+629C= MANE Select | ENSP00000262464.4:n.4717+629C= | |
ENST00000262464.8:c.4717+629C= | ENSP00000262464.4:n.4717+629C= | |
ENST00000508053.5:c.4717+629C= | ENSP00000424571.1:n.4717+629C= | |
ENST00000619499.4:c.4714+629C= | ENSP00000482132.1:n.4714+629C= | |
NM_001999.3:c.4717+629C= | NP_001990.2:n.4717+629C= | |
XM_017009228.2:c.4564+629C= | XP_016864717.1:n.4564+629C= | |
NM_001999.4:c.4717+629C= MANE Select | NP_001990.2:n.4717+629C= |