HGVS | Genome Assembly |
---|---|
NC_000003.12:g.10150291C>T , CM000665.2:g.10150291C>T | GRCh38 |
NC_000003.11:g.10191975C>T , CM000665.1:g.10191975C>T | GRCh37 |
NC_000003.10:g.10166975C>T | NCBI36 |
NG_008212.3:g.13657C>T , LRG_322:g.13657C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696142.1:c.*645C>T | ENSP00000512434.1:n.*645C>T | |
ENST00000696143.1:c.1104C>T | ENSP00000512435.1:n.1104C>T | |
ENST00000696153.1:c.*326C>T | ENSP00000512444.1:n.*326C>T | |
ENST00000256474.3:c.*326C>T MANE Select | ENSP00000256474.3:n.*326C>T | |
ENST00000256474.2:c.*326C>T | ENSP00000256474.2:n.*326C>T | |
ENST00000345392.2:c.*326C>T | ENSP00000344757.2:n.*326C>T | |
NM_000551.3:c.*326C>T , LRG_322t1:c.*326C>T | NP_000542.1:n.*326C>T | |
NM_198156.2:c.*326C>T | NP_937799.1:n.*326C>T | |
NM_001354723.1:c.*522C>T | NP_001341652.1:n.*522C>T | |
NM_000551.4:c.*326C>T MANE Select | NP_000542.1:n.*326C>T | |
NM_001354723.2:c.*522C>T | NP_001341652.1:n.*522C>T | |
NM_198156.3:c.*326C>T | NP_937799.1:n.*326C>T |