HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454337C= , CM000663.2:g.207454337C= | GRCh38 |
NC_000001.10:g.207627682C= , CM000663.1:g.207627682C= | GRCh37 |
NC_000001.9:g.205694305C= | NCBI36 |
NG_013006.1:g.5038C= , LRG_348:g.5038C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1242C= | ENSP00000514493.1:n.-385+1242C= | |
ENST00000367057.8:c.-82C= MANE Select | ENSP00000356024.3:n.-82C= | |
ENST00000367057.7:c.-82C= | ENSP00000356024.3:n.-82C= | |
ENST00000367058.7:c.-82C= | ENSP00000356025.3:n.-82C= | |
ENST00000367059.3:c.-82C= | ENSP00000356026.3:n.-82C= | |
NM_001006658.2:c.-82C= , LRG_348t1:c.-82C= | NP_001006659.1:n.-82C= | |
NM_001877.4:c.-82C= | NP_001868.2:n.-82C= | |
NM_001006658.3:c.-82C= MANE Select | NP_001006659.1:n.-82C= | |
NM_001877.5:c.-82C= | NP_001868.2:n.-82C= |