HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665180C>T , CM000679.2:g.39665180C>T | GRCh38 |
NC_000017.10:g.37821433C>T , CM000679.1:g.37821433C>T | GRCh37 |
NC_000017.9:g.35074959C>T | NCBI36 |
NG_008892.1:g.4835C>T , LRG_210:g.4835C>T | |
NG_042278.1:g.2200C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.2:c.-180C>T | ENSP00000312624.2:n.-180C>T |