HGVS | Genome Assembly |
---|---|
NC_000006.12:g.135497799C>A , CM000668.2:g.135497799C>A | GRCh38 |
NC_000006.11:g.135818937C>A , CM000668.1:g.135818937C>A | GRCh37 |
NC_000006.10:g.135860630C>A | NCBI36 |
NG_008643.1:g.4967G>T | |
NG_008643.2:g.4967G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000680033.1:c.-2315G>T | ENSP00000506426.1:n.-2315G>T | |
ENST00000681022.1:c.-2315G>T | ENSP00000505121.1:n.-2315G>T |