HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157110410A>C , CM000667.2:g.157110410A>C | GRCh38 |
NC_000005.9:g.156537421A>C , CM000667.1:g.156537421A>C | GRCh37 |
NC_000005.8:g.156469999A>C | NCBI36 |
NG_030444.1:g.3828T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524219.2:c.-293-3448T>G | ENSP00000430328.2:n.-293-3448T>G | |
ENST00000696899.1:c.-264-1163T>G | ENSP00000512960.1:n.-264-1163T>G | |
ENST00000524219.1:c.-293-3448T>G | ENSP00000430328.1:n.-293-3448T>G |