HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711475G>A , CM000677.2:g.44711475G>A | GRCh38 |
NC_000015.9:g.45003673G>A , CM000677.1:g.45003673G>A | GRCh37 |
NC_000015.8:g.42790965G>A | NCBI36 |
NG_012920.1:g.4989G>A | |
NG_012920.2:g.4999G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695792.1:n.83+35G>A |