HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589540G>C , CM000686.2:g.19589540G>C | GRCh38 |
NC_000024.9:g.21751426G>C , CM000686.1:g.21751426G>C | GRCh37 |
NC_000024.8:g.20210814G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.517G>C | ||
ENST00000686905.1:n.1602G>C | ||
ENST00000693214.1:n.1690G>C | ||
ENST00000445715.6:n.419G>C | ||
ENST00000407724.7:n.763G>C | ||
ENST00000445715.5:n.419G>C | ||
ENST00000447202.2:n.2454G>C | ||
ENST00000447520.5:n.419G>C | ||
ENST00000459719.6:n.1690G>C | ||
ENST00000538014.2:n.1709G>C | ||
ENST00000585549.5:n.62G>C | ||
ENST00000587095.1:n.60G>C | ||
ENST00000588613.5:n.128G>C | ||
ENST00000589075.5:n.101G>C | ||
NR_045128.1:n.443G>C | ||
NR_045129.1:n.443G>C |