HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233250259A>C , CM000664.2:g.233250259A>C | GRCh38 |
NC_000002.11:g.234158905A>C , CM000664.1:g.234158905A>C | GRCh37 |
NC_000002.10:g.233823644A>C | NCBI36 |
NG_023038.1:g.3689A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000431917.5:c.-137-5843A>C | ENSP00000397512.1:n.-137-5843A>C |