HGVS | Genome Assembly |
---|---|
NC_000001.11:g.817186G= , CM000663.2:g.817186G= | GRCh38 |
NC_000001.10:g.752566G= , CM000663.1:g.752566G= | GRCh37 |
NC_000001.9:g.742429G= | NCBI36 |
HGVS | Amino-acid Change |
---|---|
ENST00000447500.4:n.340+187C= | |
ENST00000634337.2:n.127+10484C= | |
ENST00000635509.2:n.100+10484C= |