HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041584T>G , CM000674.2:g.56041584T>G | GRCh38 |
NC_000012.11:g.56435368T>G , CM000674.1:g.56435368T>G | GRCh37 |
NC_000012.10:g.54721635T>G | NCBI36 |
NG_023201.1:g.4683T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-357+188T>G | ENSP00000348849.5:n.-357+188T>G | |
XR_944989.1:n.129A>C | ||
XR_944990.1:n.129A>C | ||
XR_944989.3:n.420A>C | ||
XR_944990.3:n.420A>C |