HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058627T= , CM000664.2:g.189058627T= | GRCh38 |
NC_000002.11:g.189923353T= , CM000664.1:g.189923353T= | GRCh37 |
NC_000002.10:g.189631598T= | NCBI36 |
NG_011799.1:g.126253A= | |
NG_011799.2:g.126253A= | |
NG_011799.3:g.171675A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2131-100A= MANE Select | ENSP00000364000.3:n.2131-100A= | |
ENST00000374866.7:c.2131-100A= | ENSP00000364000.3:n.2131-100A= | |
ENST00000470524.2:n.237-100A= | ||
ENST00000618828.1:c.970-100A= | ENSP00000482184.1:n.970-100A= | |
NM_000393.3:c.2131-100A= | NP_000384.2:n.2131-100A= | |
XM_011510573.1:c.1993-100A= | XP_011508875.1:n.1993-100A= | |
NM_000393.4:c.2131-100A= | NP_000384.2:n.2131-100A= | |
XM_011510573.3:c.1993-100A= | XP_011508875.1:n.1993-100A= | |
NM_000393.5:c.2131-100A= MANE Select | NP_000384.2:n.2131-100A= |