HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058606T>C , CM000664.2:g.189058606T>C | GRCh38 |
NC_000002.11:g.189923332T>C , CM000664.1:g.189923332T>C | GRCh37 |
NC_000002.10:g.189631577T>C | NCBI36 |
NG_011799.1:g.126274A>G | |
NG_011799.2:g.126274A>G | |
NG_011799.3:g.171696A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2131-79A>G MANE Select | ENSP00000364000.3:n.2131-79A>G | |
ENST00000374866.7:c.2131-79A>G | ENSP00000364000.3:n.2131-79A>G | |
ENST00000470524.2:n.237-79A>G | ||
ENST00000618828.1:c.970-79A>G | ENSP00000482184.1:n.970-79A>G | |
NM_000393.3:c.2131-79A>G | NP_000384.2:n.2131-79A>G | |
XM_011510573.1:c.1993-79A>G | XP_011508875.1:n.1993-79A>G | |
NM_000393.4:c.2131-79A>G | NP_000384.2:n.2131-79A>G | |
XM_011510573.3:c.1993-79A>G | XP_011508875.1:n.1993-79A>G | |
NM_000393.5:c.2131-79A>G MANE Select | NP_000384.2:n.2131-79A>G |