HGVS | Genome Assembly |
---|---|
NC_000012.12:g.40197371T>A , CM000674.2:g.40197371T>A | GRCh38 |
NC_000012.11:g.40591173T>A , CM000674.1:g.40591173T>A | GRCh37 |
NC_000012.10:g.38877440T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000416796.5:c.-63+598T>A | ENSP00000398726.1:n.-63+598T>A |