HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981736T>C , CM000674.2:g.48981736T>C | GRCh38 |
NC_000012.11:g.49375519T>C , CM000674.1:g.49375519T>C | GRCh37 |
NC_000012.10:g.47661786T>C | NCBI36 |
NG_033141.1:g.8284T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*96T>C MANE Select | ENSP00000293549.3:n.*96T>C | |
NM_005430.3:c.*96T>C | NP_005421.1:n.*96T>C | |
NM_005430.4:c.*96T>C MANE Select | NP_005421.1:n.*96T>C |