HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60649498C>T , CM000676.2:g.60649498C>T | GRCh38 |
NC_000014.8:g.61116216C>T , CM000676.1:g.61116216C>T | GRCh37 |
NC_000014.7:g.60185969C>T | NCBI36 |
NG_008231.1:g.4940G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553535.2:n.248+2437G>A | ||
ENST00000554986.2:c.42-2921G>A | ENSP00000452700.2:n.42-2921G>A | |
ENST00000555955.3:n.1197+2437G>A |