HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28659069T>C , CM000675.2:g.28659069T>C | GRCh38 |
NC_000013.10:g.29233206T>C , CM000675.1:g.29233206T>C | GRCh37 |
NC_000013.9:g.28131206T>C | NCBI36 |
NG_027550.1:g.5066T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697716.1:c.-201T>C | ENSP00000513414.1:n.-201T>C | |
NM_015932.5:c.-116T>C | NP_057016.1:n.-116T>C |