HGVS | Genome Assembly |
---|---|
NC_000003.12:g.10150320G>A , CM000665.2:g.10150320G>A | GRCh38 |
NC_000003.11:g.10192004G>A , CM000665.1:g.10192004G>A | GRCh37 |
NC_000003.10:g.10167004G>A | NCBI36 |
NG_008212.3:g.13686G>A , LRG_322:g.13686G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696142.1:c.*674G>A | ENSP00000512434.1:n.*674G>A | |
ENST00000696143.1:c.1133G>A | ENSP00000512435.1:n.1133G>A | |
ENST00000696153.1:c.*355G>A | ENSP00000512444.1:n.*355G>A | |
ENST00000256474.3:c.*355G>A MANE Select | ENSP00000256474.3:n.*355G>A | |
ENST00000256474.2:c.*355G>A | ENSP00000256474.2:n.*355G>A | |
ENST00000345392.2:c.*355G>A | ENSP00000344757.2:n.*355G>A | |
NM_000551.3:c.*355G>A , LRG_322t1:c.*355G>A | NP_000542.1:n.*355G>A | |
NM_198156.2:c.*355G>A | NP_937799.1:n.*355G>A | |
NM_001354723.1:c.*551G>A | NP_001341652.1:n.*551G>A | |
NM_000551.4:c.*355G>A MANE Select | NP_000542.1:n.*355G>A | |
NM_001354723.2:c.*551G>A | NP_001341652.1:n.*551G>A | |
NM_198156.3:c.*355G>A | NP_937799.1:n.*355G>A |