HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293117C= , CM000684.2:g.45293117C= | GRCh38 |
NC_000022.10:g.45688998C= , CM000684.1:g.45688998C= | GRCh37 |
NC_000022.9:g.44067662C= | NCBI36 |
NG_016203.1:g.13131C= | |
NG_016203.2:g.13131C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216211.9:c.572-64C= MANE Select | ENSP00000216211.4:n.572-64C= | |
ENST00000216211.8:c.572-64C= | ENSP00000216211.4:n.572-64C= | |
ENST00000396082.2:c.209-64C= | ENSP00000379391.2:n.209-64C= | |
NM_001167574.1:c.209-64C= | NP_001161046.1:n.209-64C= | |
NM_006953.3:c.572-64C= | NP_008884.1:n.572-64C= | |
XM_011530364.1:c.578-64C= | XP_011528666.1:n.578-64C= | |
XM_011530365.1:c.215-64C= | XP_011528667.1:n.215-64C= | |
NM_006953.4:c.572-64C= MANE Select | NP_008884.1:n.572-64C= | |
NM_001167574.2:c.209-64C= | NP_001161046.1:n.209-64C= |