HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041596G>T , CM000674.2:g.56041596G>T | GRCh38 |
NC_000012.11:g.56435380G>T , CM000674.1:g.56435380G>T | GRCh37 |
NC_000012.10:g.54721647G>T | NCBI36 |
NG_023201.1:g.4695G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-357+200G>T | ENSP00000348849.5:n.-357+200G>T | |
XR_944989.1:n.117C>A | ||
XR_944990.1:n.117C>A | ||
XR_944989.3:n.408C>A | ||
XR_944990.3:n.408C>A |