HGVS | Genome Assembly |
---|---|
NC_000007.14:g.74789341G>C , CM000669.2:g.74789341G>C | GRCh38 |
NC_000007.13:g.74203685G>C , CM000669.1:g.74203685G>C | GRCh37 |
NC_000007.12:g.73841621G>C | NCBI36 |
NG_009078.2:g.20378G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000289473.10:c.*181G>C | ENSP00000289473.4:n.*181G>C | |
NM_000265.5:c.*181G>C | NP_000256.4:n.*181G>C | |
XM_005250543.3:c.*275G>C | XP_005250600.2:n.*275G>C | |
XM_011516498.1:c.*228G>C | XP_011514800.1:n.*228G>C | |
XM_011516501.1:c.*181G>C | XP_011514803.1:n.*181G>C | |
NM_000265.6:c.*181G>C | NP_000256.4:n.*181G>C |