HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60649555C>A , CM000676.2:g.60649555C>A | GRCh38 |
NC_000014.8:g.61116273C>A , CM000676.1:g.61116273C>A | GRCh37 |
NC_000014.7:g.60186026C>A | NCBI36 |
NG_008231.1:g.4883G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553535.2:n.248+2380G>T | ||
ENST00000554986.2:c.42-2978G>T | ENSP00000452700.2:n.42-2978G>T | |
ENST00000555955.3:n.1197+2380G>T |