HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431258A>G , CM000663.2:g.229431258A>G | GRCh38 |
NC_000001.10:g.229567005A>G , CM000663.1:g.229567005A>G | GRCh37 |
NC_000001.9:g.227633628A>G | NCBI36 |
NG_006672.1:g.7839T>C , LRG_429:g.7839T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.*241T>C | ENSP00000355644.4:n.*241T>C | |
ENST00000684723.1:c.*241T>C | ENSP00000508084.1:n.*241T>C | |
ENST00000366683.3:c.*241T>C | ENSP00000355644.3:n.*241T>C | |
ENST00000366684.7:c.*241T>C MANE Select | ENSP00000355645.3:n.*241T>C | |
NM_001100.3:c.*241T>C , LRG_429t1:c.*241T>C | NP_001091.1:n.*241T>C | |
NM_001100.4:c.*241T>C MANE Select | NP_001091.1:n.*241T>C |