HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21200614C>A , CM000674.2:g.21200614C>A | GRCh38 |
NC_000012.11:g.21353548C>A , CM000674.1:g.21353548C>A | GRCh37 |
NC_000012.10:g.21244815C>A | NCBI36 |
NG_011745.1:g.74421C>A , LRG_1022:g.74421C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.1077C>A MANE Select | ENSP00000256958.2:p.Val359= | |
ENST00000256958.2:c.1077C>A | ENSP00000256958.2:p.Val359= | |
NM_006446.4:c.1077C>A , LRG_1022t1:c.1077C>A | NP_006437.3:p.Val359= | |
NM_006446.5:c.1077C>A MANE Select | NP_006437.3:p.Val359= |