HGVS | Genome Assembly |
---|---|
NC_000011.10:g.92972012G>T , CM000673.2:g.92972012G>T | GRCh38 |
NC_000011.9:g.92705178G>T , CM000673.1:g.92705178G>T | GRCh37 |
NC_000011.8:g.92344826G>T | NCBI36 |
NG_028160.1:g.7390G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257068.3:c.223+2064G>T MANE Select | ENSP00000257068.2:n.223+2064G>T | |
ENST00000257068.2:c.223+2064G>T | ENSP00000257068.2:n.223+2064G>T | |
ENST00000528076.1:c.165+2064G>T | ||
ENST00000532482.1:c.224-449G>T | ENSP00000436101.1:n.224-449G>T | |
NM_005959.3:c.223+2064G>T | NP_005950.1:n.223+2064G>T | |
XM_011542839.1:c.223+2064G>T | XP_011541141.1:n.223+2064G>T | |
XM_011542839.2:c.223+2064G>T | XP_011541141.1:n.223+2064G>T | |
NM_005959.5:c.223+2064G>T MANE Select | NP_005950.1:n.223+2064G>T |