HGVS | Genome Assembly |
---|---|
NC_000006.12:g.149287717G>C , CM000668.2:g.149287717G>C | GRCh38 |
NC_000006.11:g.149608853G>C , CM000668.1:g.149608853G>C | GRCh37 |
NC_000006.10:g.149650546G>C | NCBI36 |
NG_021386.2:g.74794G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606202.1:c.-121+68941G>C | ENSP00000476139.1:n.-121+68941G>C | |
NM_001292035.2:c.6+68941G>C | NP_001278964.1:n.6+68941G>C | |
NM_001292035.3:c.6+68941G>C | NP_001278964.1:n.6+68941G>C |