HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589414A>C , CM000686.2:g.19589414A>C | GRCh38 |
NC_000024.9:g.21751300A>C , CM000686.1:g.21751300A>C | GRCh37 |
NC_000024.8:g.20210688A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.498-107A>C | ||
ENST00000686905.1:n.1476A>C | ||
ENST00000693214.1:n.1564A>C | ||
ENST00000445715.6:n.400-107A>C | ||
ENST00000407724.7:n.750-113A>C | ||
ENST00000445715.5:n.400-107A>C | ||
ENST00000447202.2:n.2328A>C | ||
ENST00000447520.5:n.400-107A>C | ||
ENST00000459719.6:n.1564A>C | ||
ENST00000538014.2:n.1583A>C | ||
ENST00000585549.5:n.43-107A>C | ||
ENST00000587095.1:n.41-107A>C | ||
ENST00000588613.5:n.109-107A>C | ||
ENST00000589075.5:n.82-107A>C | ||
NR_045128.1:n.424-107A>C | ||
NR_045129.1:n.424-107A>C |