HGVS | Genome Assembly |
---|---|
NC_000006.12:g.109305335G>C , CM000668.2:g.109305335G>C | GRCh38 |
NC_000006.11:g.109626538G>C , CM000668.1:g.109626538G>C | GRCh37 |
NC_000006.10:g.109733231G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429614.6:n.323-624G>C | ||
ENST00000689724.1:n.55-624G>C | ||
ENST00000691019.1:n.505-624G>C | ||
ENST00000691264.1:n.61-624G>C | ||
ENST00000693346.1:n.55-624G>C | ||
ENST00000368966.10:n.4200-624G>C | ||
ENST00000638844.1:n.456-624G>C | ||
ENST00000368966.8:n.456-624G>C | ||
ENST00000422819.5:n.462-624G>C | ||
ENST00000429614.5:n.323-624G>C | ||
ENST00000615766.4:n.825-624G>C | ||
NR_028595.1:n.323-624G>C | ||
NR_152435.1:n.4168-624G>C |