HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451699A= , CM000674.2:g.52451699A= | GRCh38 |
NC_000012.11:g.52845483A= , CM000674.1:g.52845483A= | GRCh37 |
NC_000012.10:g.51131750A= | NCBI36 |
NG_008299.1:g.5428T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.380T= MANE Select | ENSP00000252252.3:p.Phe127= | |
ENST00000252252.3:c.380T= | ENSP00000252252.3:p.Phe127= | |
NM_005555.3:c.380T= | NP_005546.2:p.Phe127= | |
NM_005555.4:c.380T= MANE Select | NP_005546.2:p.Phe127= |