HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045627A= , CM000674.2:g.5045627A= | GRCh38 |
NC_000012.11:g.5154793A= , CM000674.1:g.5154793A= | GRCh37 |
NC_000012.10:g.5025054A= | NCBI36 |
NG_012198.1:g.6709A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1480A= MANE Select | ENSP00000252321.3:p.Lys494= | |
ENST00000252321.4:c.1480A= | ENSP00000252321.3:p.Lys494= | |
NM_002234.3:c.1480A= | NP_002225.2:p.Lys494= | |
NM_002234.4:c.1480A= MANE Select | NP_002225.2:p.Lys494= |