HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27102693A>G , CM000669.2:g.27102693A>G | GRCh38 |
NC_000007.13:g.27142312A>G , CM000669.1:g.27142312A>G | GRCh37 |
NC_000007.12:g.27108837A>G | NCBI36 |
NG_012078.1:g.5083T>C | |
NG_012078.2:g.5083T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222718.6:c.-193T>C | ENSP00000222718.5:n.-193T>C | |
NM_006735.3:c.-193T>C | NP_006726.1:n.-193T>C |