HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54228462G>C , CM000666.2:g.54228462G>C | GRCh38 |
NC_000004.11:g.55094629G>C , CM000666.1:g.55094629G>C | GRCh37 |
NC_000004.10:g.54789386G>C | NCBI36 |
NG_009250.1:g.4366G>C , LRG_309:g.4366G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000507166.5:c.1018-46463G>C | ENSP00000423325.1:n.1018-46463G>C |