HGVS | Genome Assembly |
---|---|
NC_000008.11:g.104379351G>T , CM000670.2:g.104379351G>T | GRCh38 |
NC_000008.10:g.105391579G>T , CM000670.1:g.105391579G>T | GRCh37 |
NC_000008.9:g.105460755G>T | NCBI36 |
NG_008840.1:g.92699C>A | |
NG_008840.2:g.92699C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521601.1:n.328+1833C>A |