HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132369650C>A , CM000667.2:g.132369650C>A | GRCh38 |
NC_000005.9:g.131705342C>A , CM000667.1:g.131705342C>A | GRCh37 |
NC_000005.8:g.131733241C>A | NCBI36 |
NG_008982.1:g.4942C>A | |
NG_008982.2:g.4947C>A |
HGVS | Amino-acid Change | |
---|---|---|
NR_110997.1:n.73+194G>T |