HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589542T>A , CM000686.2:g.19589542T>A | GRCh38 |
NC_000024.9:g.21751428T>A , CM000686.1:g.21751428T>A | GRCh37 |
NC_000024.8:g.20210816T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.519T>A | ||
ENST00000686905.1:n.1604T>A | ||
ENST00000693214.1:n.1692T>A | ||
ENST00000445715.6:n.421T>A | ||
ENST00000407724.7:n.765T>A | ||
ENST00000445715.5:n.421T>A | ||
ENST00000447202.2:n.2456T>A | ||
ENST00000447520.5:n.421T>A | ||
ENST00000459719.6:n.1692T>A | ||
ENST00000538014.2:n.1711T>A | ||
ENST00000585549.5:n.64T>A | ||
ENST00000587095.1:n.62T>A | ||
ENST00000588613.5:n.130T>A | ||
ENST00000589075.5:n.103T>A | ||
NR_045128.1:n.445T>A | ||
NR_045129.1:n.445T>A |