HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24347926C= , CM000668.2:g.24347926C= | GRCh38 |
NC_000006.11:g.24348154C= , CM000668.1:g.24348154C= | GRCh37 |
NC_000006.10:g.24456133C= | NCBI36 |
NG_012829.1:g.15127G= | |
NG_012829.2:g.40367G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.348+5643G= MANE Select | ENSP00000367715.3:n.348+5643G= | |
ENST00000378454.7:c.348+5643G= | ENSP00000367715.3:n.348+5643G= | |
NM_001195610.1:c.348+5643G= | NP_001182539.1:n.348+5643G= | |
NM_016356.4:c.348+5643G= | NP_057440.2:n.348+5643G= | |
NM_016356.5:c.348+5643G= MANE Select | NP_057440.2:n.348+5643G= | |
NM_001195610.2:c.348+5643G= | NP_001182539.1:n.348+5643G= |