HGVS | Genome Assembly |
---|---|
NC_000001.11:g.42734563C>T , CM000663.2:g.42734563C>T | GRCh38 |
NC_000001.10:g.43200234C>T , CM000663.1:g.43200234C>T | GRCh37 |
NC_000001.9:g.42972821C>T | NCBI36 |
NG_008993.1:g.10692G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296387.6:c.*523G>A MANE Select | ENSP00000296387.1:n.*523G>A | |
ENST00000296387.5:c.*523G>A | ENSP00000296387.1:n.*523G>A | |
ENST00000539749.5:c.*1199G>A | ENSP00000443229.1:n.*1199G>A | |
NM_001123395.1:c.*1305G>A | NP_001116867.1:n.*1305G>A | |
NM_001185117.1:c.*1199G>A | NP_001172046.1:n.*1199G>A | |
NM_148960.2:c.*523G>A | NP_683763.2:n.*523G>A | |
NM_001123395.2:c.*1305G>A | NP_001116867.1:n.*1305G>A | |
NM_148960.3:c.*523G>A MANE Select | NP_683763.2:n.*523G>A | |
NM_001185117.2:c.*1199G>A | NP_001172046.1:n.*1199G>A |