HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050261G>T , CM000664.2:g.189050261G>T | GRCh38 |
NC_000002.11:g.189914987G>T , CM000664.1:g.189914987G>T | GRCh37 |
NC_000002.10:g.189623232G>T | NCBI36 |
NG_011799.1:g.134619C>A | |
NG_011799.2:g.134619C>A | |
NG_011799.3:g.180041C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3039+308C>A MANE Select | ENSP00000364000.3:n.3039+308C>A | |
ENST00000374866.7:c.3039+308C>A | ENSP00000364000.3:n.3039+308C>A | |
ENST00000618828.1:c.1878+308C>A | ENSP00000482184.1:n.1878+308C>A | |
NM_000393.3:c.3039+308C>A | NP_000384.2:n.3039+308C>A | |
XM_011510573.1:c.2901+308C>A | XP_011508875.1:n.2901+308C>A | |
NM_000393.4:c.3039+308C>A | NP_000384.2:n.3039+308C>A | |
XM_011510573.3:c.2901+308C>A | XP_011508875.1:n.2901+308C>A | |
NM_000393.5:c.3039+308C>A MANE Select | NP_000384.2:n.3039+308C>A |