HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38076301G>C , CM000664.2:g.38076301G>C | GRCh38 |
NC_000002.11:g.38303443G>C , CM000664.1:g.38303443G>C | GRCh37 |
NC_000002.10:g.38156947G>C | NCBI36 |
NG_008386.2:g.4801C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000494864.1:c.-70-4991C>G | ENSP00000479876.1:n.-70-4991C>G | |
XM_011533236.1:c.915G>C | XP_011531538.1:p.Ser305= |