HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589564G>T , CM000686.2:g.19589564G>T | GRCh38 |
NC_000024.9:g.21751450G>T , CM000686.1:g.21751450G>T | GRCh37 |
NC_000024.8:g.20210838G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.541G>T | ||
ENST00000686905.1:n.1626G>T | ||
ENST00000693214.1:n.1714G>T | ||
ENST00000445715.6:n.443G>T | ||
ENST00000407724.7:n.787G>T | ||
ENST00000445715.5:n.443G>T | ||
ENST00000447202.2:n.2478G>T | ||
ENST00000447520.5:n.443G>T | ||
ENST00000459719.6:n.1714G>T | ||
ENST00000538014.2:n.1733G>T | ||
ENST00000585549.5:n.86G>T | ||
ENST00000587095.1:n.84G>T | ||
ENST00000588613.5:n.152G>T | ||
ENST00000589075.5:n.125G>T | ||
NR_045128.1:n.467G>T | ||
NR_045129.1:n.467G>T |