HGVS | Genome Assembly |
---|---|
NC_000003.12:g.10153328G>A , CM000665.2:g.10153328G>A | GRCh38 |
NC_000003.11:g.10195012G>A , CM000665.1:g.10195012G>A | GRCh37 |
NC_000003.10:g.10170012G>A | NCBI36 |
NG_008212.3:g.16694G>A , LRG_322:g.16694G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696153.1:c.*3363G>A | ENSP00000512444.1:n.*3363G>A | |
ENST00000256474.3:c.*3363G>A MANE Select | ENSP00000256474.3:n.*3363G>A | |
NM_000551.3:c.*3363G>A , LRG_322t1:c.*3363G>A | NP_000542.1:n.*3363G>A | |
NM_198156.2:c.*3363G>A | NP_937799.1:n.*3363G>A | |
NM_001354723.1:c.*3559G>A | NP_001341652.1:n.*3559G>A | |
NM_000551.4:c.*3363G>A MANE Select | NP_000542.1:n.*3363G>A | |
NM_001354723.2:c.*3559G>A | NP_001341652.1:n.*3559G>A | |
NM_198156.3:c.*3363G>A | NP_937799.1:n.*3363G>A |