HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24204640G= , CM000668.2:g.24204640G= | GRCh38 |
NC_000006.11:g.24204868G= , CM000668.1:g.24204868G= | GRCh37 |
NC_000006.10:g.24312847G= | NCBI36 |
NG_012829.1:g.158413C= | |
NG_012829.2:g.183653C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1023+362C= MANE Select | ENSP00000367715.3:n.1023+362C= | |
ENST00000378450.6:c.282+362C= | ENSP00000367711.3:n.282+362C= | |
ENST00000378454.7:c.1023+362C= | ENSP00000367715.3:n.1023+362C= | |
NM_001195610.1:c.1023+362C= | NP_001182539.1:n.1023+362C= | |
NM_016356.4:c.1023+362C= | NP_057440.2:n.1023+362C= | |
NM_016356.5:c.1023+362C= MANE Select | NP_057440.2:n.1023+362C= | |
NM_001195610.2:c.1023+362C= | NP_001182539.1:n.1023+362C= |