HGVS | Genome Assembly |
---|---|
NC_000001.11:g.42733326G>A , CM000663.2:g.42733326G>A | GRCh38 |
NC_000001.10:g.43198997G>A , CM000663.1:g.43198997G>A | GRCh37 |
NC_000001.9:g.42971584G>A | NCBI36 |
NG_008993.1:g.11929C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296387.6:c.*1760C>T MANE Select | ENSP00000296387.1:n.*1760C>T | |
ENST00000296387.5:c.*1760C>T | ENSP00000296387.1:n.*1760C>T | |
ENST00000539749.5:c.*2436C>T | ENSP00000443229.1:n.*2436C>T | |
NM_001123395.1:c.*2542C>T | NP_001116867.1:n.*2542C>T | |
NM_001185117.1:c.*2436C>T | NP_001172046.1:n.*2436C>T | |
NM_148960.2:c.*1760C>T | NP_683763.2:n.*1760C>T | |
NM_001123395.2:c.*2542C>T | NP_001116867.1:n.*2542C>T | |
NM_148960.3:c.*1760C>T MANE Select | NP_683763.2:n.*1760C>T | |
NM_001185117.2:c.*2436C>T | NP_001172046.1:n.*2436C>T |