HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48965804T>A , CM000674.2:g.48965804T>A | GRCh38 |
NC_000012.11:g.49359587T>A , CM000674.1:g.49359587T>A | GRCh37 |
NC_000012.10:g.47645854T>A | NCBI36 |
NG_023347.1:g.11055A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301061.9:c.*291A>T MANE Select | ENSP00000301061.4:n.*291A>T | |
ENST00000301061.8:c.*291A>T | ENSP00000301061.4:n.*291A>T | |
ENST00000403957.5:c.*743A>T | ENSP00000385980.1:n.*743A>T | |
ENST00000407467.5:c.*743A>T | ENSP00000384691.1:n.*743A>T | |
NM_003394.3:c.*291A>T | NP_003385.2:n.*291A>T | |
XM_011538721.1:c.*291A>T | XP_011537023.1:n.*291A>T | |
XM_011538722.1:c.*291A>T | XP_011537024.1:n.*291A>T | |
XM_017019919.1:c.*291A>T | XP_016875408.1:n.*291A>T | |
XM_024449179.1:c.*291A>T | XP_024304947.1:n.*291A>T | |
NM_003394.4:c.*291A>T MANE Select | NP_003385.2:n.*291A>T |