HGVS | Genome Assembly |
---|---|
NC_000014.9:g.94612340G>C , CM000676.2:g.94612340G>C | GRCh38 |
NC_000014.8:g.95078677G>C , CM000676.1:g.95078677G>C | GRCh37 |
NC_000014.7:g.94148430G>C | NCBI36 |
NG_012879.1:g.4964G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000553947.1:c.848G>C |