HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54221353G>C , CM000666.2:g.54221353G>C | GRCh38 |
NC_000004.11:g.55087520G>C , CM000666.1:g.55087520G>C | GRCh37 |
NC_000004.10:g.54782277G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000493291.1:n.228G>C | ||
ENST00000507166.5:c.1018-53572G>C | ENSP00000423325.1:n.1018-53572G>C |