HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050268C= , CM000664.2:g.189050268C= | GRCh38 |
NC_000002.11:g.189914994C= , CM000664.1:g.189914994C= | GRCh37 |
NC_000002.10:g.189623239C= | NCBI36 |
NG_011799.1:g.134612G= | |
NG_011799.2:g.134612G= | |
NG_011799.3:g.180034G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3039+301G= MANE Select | ENSP00000364000.3:n.3039+301G= | |
ENST00000374866.7:c.3039+301G= | ENSP00000364000.3:n.3039+301G= | |
ENST00000618828.1:c.1878+301G= | ENSP00000482184.1:n.1878+301G= | |
NM_000393.3:c.3039+301G= | NP_000384.2:n.3039+301G= | |
XM_011510573.1:c.2901+301G= | XP_011508875.1:n.2901+301G= | |
NM_000393.4:c.3039+301G= | NP_000384.2:n.3039+301G= | |
XM_011510573.3:c.2901+301G= | XP_011508875.1:n.2901+301G= | |
NM_000393.5:c.3039+301G= MANE Select | NP_000384.2:n.3039+301G= |