HGVS | Genome Assembly |
---|---|
NC_000008.11:g.104379354C>A , CM000670.2:g.104379354C>A | GRCh38 |
NC_000008.10:g.105391582C>A , CM000670.1:g.105391582C>A | GRCh37 |
NC_000008.9:g.105460758C>A | NCBI36 |
NG_008840.1:g.92696G>T | |
NG_008840.2:g.92696G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521601.1:n.328+1830G>T |