HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041543G>T , CM000674.2:g.56041543G>T | GRCh38 |
NC_000012.11:g.56435327G>T , CM000674.1:g.56435327G>T | GRCh37 |
NC_000012.10:g.54721594G>T | NCBI36 |
NG_023201.1:g.4642G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-357+147G>T | ENSP00000348849.5:n.-357+147G>T | |
XR_944989.1:n.170C>A | ||
XR_944990.1:n.170C>A | ||
XR_944989.3:n.461C>A | ||
XR_944990.3:n.461C>A |