HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54228594C= , CM000666.2:g.54228594C= | GRCh38 |
NC_000004.11:g.55094761C= , CM000666.1:g.55094761C= | GRCh37 |
NC_000004.10:g.54789518C= | NCBI36 |
NG_009250.1:g.4498C= , LRG_309:g.4498C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000507166.5:c.1018-46331C= | ENSP00000423325.1:n.1018-46331C= |