HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344193G= , CM000667.2:g.128344193G= | GRCh38 |
NC_000005.9:g.127679885G= , CM000667.1:g.127679885G= | GRCh37 |
NC_000005.8:g.127707784G= | NCBI36 |
NG_008750.1:g.198851C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.3343+192C= MANE Select | ENSP00000262464.4:n.3343+192C= | |
ENST00000262464.8:c.3343+192C= | ENSP00000262464.4:n.3343+192C= | |
ENST00000508053.5:c.3343+192C= | ENSP00000424571.1:n.3343+192C= | |
ENST00000508989.5:c.3244+192C= | ENSP00000425596.1:n.3244+192C= | |
ENST00000619499.4:c.3340+192C= | ENSP00000482132.1:n.3340+192C= | |
NM_001999.3:c.3343+192C= | NP_001990.2:n.3343+192C= | |
XM_017009228.2:c.3190+192C= | XP_016864717.1:n.3190+192C= | |
NM_001999.4:c.3343+192C= MANE Select | NP_001990.2:n.3343+192C= |