HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665819A= , CM000663.2:g.172665819A= | GRCh38 |
NC_000001.10:g.172634959A= , CM000663.1:g.172634959A= | GRCh37 |
NC_000001.9:g.170901582A= | NCBI36 |
NG_007269.1:g.11775A= , LRG_58:g.11775A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.649A= MANE Select | ENSP00000356694.2:p.Lys217= | |
ENST00000340030.4:c.*219A= | ENSP00000344739.3:n.*219A= | |
ENST00000367721.2:c.649A= | ENSP00000356694.2:p.Lys217= | |
NM_000639.2:c.649A= | NP_000630.1:p.Lys217= | |
NM_001302746.1:c.*219A= | NP_001289675.1:n.*219A= | |
NM_000639.3:c.649A= MANE Select | NP_000630.1:p.Lys217= | |
NM_001302746.2:c.*219A= | NP_001289675.1:n.*219A= |