HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55125576C>A , CM000666.2:g.55125576C>A | GRCh38 |
NC_000004.11:g.55991743C>A , CM000666.1:g.55991743C>A | GRCh37 |
NC_000004.10:g.55686500C>A | NCBI36 |
NG_012004.1:g.5020G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.-283G>T MANE Select | ENSP00000263923.4:n.-283G>T | |
ENST00000263923.4:c.-283G>T | ENSP00000263923.4:n.-283G>T | |
NM_002253.2:c.-283G>T | NP_002244.1:n.-283G>T | |
NM_002253.3:c.-283G>T | NP_002244.1:n.-283G>T | |
NM_002253.4:c.-283G>T MANE Select | NP_002244.1:n.-283G>T |