HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52814187A>C , CM000674.2:g.52814187A>C | GRCh38 |
NC_000012.11:g.53207971A>C , CM000674.1:g.53207971A>C | GRCh37 |
NC_000012.10:g.51494238A>C | NCBI36 |
NG_007380.1:g.5365T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000551956.1:c.-129T>G | ENSP00000448220.1:n.-129T>G |