HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32819181T>C , CM000668.2:g.32819181T>C | GRCh38 |
NC_000006.11:g.32786958T>C , CM000668.1:g.32786958T>C | GRCh37 |
NC_000006.10:g.32894936T>C | NCBI36 |
NG_009793.3:g.24590A>G | |
NG_012008.1:g.2868A>G | |
NG_009793.4:g.24590A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648009.1:c.-2+1130A>G | ENSP00000496848.1:n.-2+1130A>G | |
ENST00000452392.2:c.1933-2229A>G | ENSP00000391806.2:n.1933-2229A>G |