HGVS | Genome Assembly |
---|---|
NC_000019.10:g.11571596C>G , CM000681.2:g.11571596C>G | GRCh38 |
NC_000019.9:g.11682411C>G , CM000681.1:g.11682411C>G | GRCh37 |
NC_000019.8:g.11543411C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000585493.5:c.-197-3654C>G | ENSP00000464997.1:n.-197-3654C>G | |
ENST00000588651.1:n.428-3654C>G | ||
ENST00000593279.5:n.416-3654C>G |