HGVS | Genome Assembly |
---|---|
NC_000001.11:g.42734447G>A , CM000663.2:g.42734447G>A | GRCh38 |
NC_000001.10:g.43200118G>A , CM000663.1:g.43200118G>A | GRCh37 |
NC_000001.9:g.42972705G>A | NCBI36 |
NG_008993.1:g.10808C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296387.6:c.*639C>T MANE Select | ENSP00000296387.1:n.*639C>T | |
ENST00000296387.5:c.*639C>T | ENSP00000296387.1:n.*639C>T | |
ENST00000539749.5:c.*1315C>T | ENSP00000443229.1:n.*1315C>T | |
NM_001123395.1:c.*1421C>T | NP_001116867.1:n.*1421C>T | |
NM_001185117.1:c.*1315C>T | NP_001172046.1:n.*1315C>T | |
NM_148960.2:c.*639C>T | NP_683763.2:n.*639C>T | |
NM_001123395.2:c.*1421C>T | NP_001116867.1:n.*1421C>T | |
NM_148960.3:c.*639C>T MANE Select | NP_683763.2:n.*639C>T | |
NM_001185117.2:c.*1315C>T | NP_001172046.1:n.*1315C>T |