HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48256972G>C , CM000681.2:g.48256972G>C | GRCh38 |
NC_000019.9:g.48760229G>C , CM000681.1:g.48760229G>C | GRCh37 |
NC_000019.8:g.53452041G>C | NCBI36 |
NG_029574.1:g.3975C>G | |
NG_029574.2:g.4298C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000597695.1:c.-162+18987G>C (ZNF114) | ENSP00000472747.1:n.-162+18987G>C | |
NR_040599.1:n.742G>C (CARD8-AS1) |