HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888084T= , CM000684.2:g.20888084T= | GRCh38 |
NC_000022.10:g.21242372T= , CM000684.1:g.21242372T= | GRCh37 |
NC_000022.9:g.19572372T= | NCBI36 |
NG_012152.1:g.34081T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*248T= MANE Select | ENSP00000215730.6:n.*248T= | |
ENST00000215730.11:c.*248T= | ENSP00000215730.6:n.*248T= | |
NM_004782.3:c.*248T= | NP_004773.1:n.*248T= | |
NM_004782.4:c.*248T= MANE Select | NP_004773.1:n.*248T= |