HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5227075C>T , CM000673.2:g.5227075C>T | GRCh38 |
NC_000011.9:g.5248305C>T , CM000673.1:g.5248305C>T | GRCh37 |
NC_000011.8:g.5204881C>T | NCBI36 |
NG_000007.3:g.70541G>A | |
NG_059281.1:g.4997G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.-54G>A | ENSP00000494175.1:n.-54G>A | |
ENST00000380315.2:c.-18-36G>A | ENSP00000369671.2:n.-18-36G>A |