HGVS | Genome Assembly |
---|---|
NC_000007.14:g.149592373G>A , CM000669.2:g.149592373G>A | GRCh38 |
NC_000007.13:g.149289464G>A , CM000669.1:g.149289464G>A | GRCh37 |
NC_000007.12:g.148920397G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684939.1:n.649+27551C>T | ||
ENST00000690388.1:n.515+27551C>T | ||
ENST00000463567.5:n.600+27551C>T | ||
ENST00000472212.5:n.752+27551C>T | ||
ENST00000481762.5:n.219+27551C>T | ||
ENST00000486492.5:n.628+27551C>T | ||
NR_027788.1:n.663+27551C>T | ||
NR_027789.1:n.790+27551C>T |