HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32819173C>A , CM000668.2:g.32819173C>A | GRCh38 |
NC_000006.11:g.32786950C>A , CM000668.1:g.32786950C>A | GRCh37 |
NC_000006.10:g.32894928C>A | NCBI36 |
NG_009793.3:g.24598G>T | |
NG_012008.1:g.2876G>T | |
NG_009793.4:g.24598G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648009.1:c.-2+1138G>T | ENSP00000496848.1:n.-2+1138G>T | |
ENST00000452392.2:c.1933-2221G>T | ENSP00000391806.2:n.1933-2221G>T |