HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65965787G>A , CM000674.2:g.65965787G>A | GRCh38 |
NC_000012.11:g.66359567G>A , CM000674.1:g.66359567G>A | GRCh37 |
NC_000012.10:g.64645834G>A | NCBI36 |
NG_016296.1:g.146328G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.*2495G>A MANE Select | ENSP00000384026.2:n.*2495G>A | |
ENST00000403681.6:c.*2495G>A | ENSP00000384026.2:n.*2495G>A | |
NM_003483.4:c.*2495G>A | NP_003474.1:n.*2495G>A | |
NM_003483.6:c.*2495G>A MANE Select | NP_003474.1:n.*2495G>A |