HGVS | Genome Assembly |
---|---|
NC_000006.12:g.109305362C>T , CM000668.2:g.109305362C>T | GRCh38 |
NC_000006.11:g.109626565C>T , CM000668.1:g.109626565C>T | GRCh37 |
NC_000006.10:g.109733258C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429614.6:n.323-597C>T | ||
ENST00000689724.1:n.55-597C>T | ||
ENST00000691019.1:n.505-597C>T | ||
ENST00000691264.1:n.61-597C>T | ||
ENST00000693346.1:n.55-597C>T | ||
ENST00000368966.10:n.4200-597C>T | ||
ENST00000638844.1:n.456-597C>T | ||
ENST00000368966.8:n.456-597C>T | ||
ENST00000422819.5:n.462-597C>T | ||
ENST00000429614.5:n.323-597C>T | ||
ENST00000615766.4:n.825-597C>T | ||
NR_028595.1:n.323-597C>T | ||
NR_152435.1:n.4168-597C>T |