HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30904720T>G , CM000678.2:g.30904720T>G | GRCh38 |
NC_000016.9:g.30916041T>G , CM000678.1:g.30916041T>G | GRCh37 |
NC_000016.8:g.30823542T>G | NCBI36 |
NG_009171.1:g.13114T>G , LRG_408:g.13114T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000412003.1:n.232A>C |