HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589409G>T , CM000686.2:g.19589409G>T | GRCh38 |
NC_000024.9:g.21751295G>T , CM000686.1:g.21751295G>T | GRCh37 |
NC_000024.8:g.20210683G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.498-112G>T | ||
ENST00000686905.1:n.1471G>T | ||
ENST00000693214.1:n.1559G>T | ||
ENST00000445715.6:n.400-112G>T | ||
ENST00000407724.7:n.750-118G>T | ||
ENST00000445715.5:n.400-112G>T | ||
ENST00000447202.2:n.2323G>T | ||
ENST00000447520.5:n.400-112G>T | ||
ENST00000459719.6:n.1559G>T | ||
ENST00000538014.2:n.1578G>T | ||
ENST00000585549.5:n.43-112G>T | ||
ENST00000587095.1:n.41-112G>T | ||
ENST00000588613.5:n.109-112G>T | ||
ENST00000589075.5:n.82-112G>T | ||
NR_045128.1:n.424-112G>T | ||
NR_045129.1:n.424-112G>T |