HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981783A>T , CM000674.2:g.48981783A>T | GRCh38 |
NC_000012.11:g.49375566A>T , CM000674.1:g.49375566A>T | GRCh37 |
NC_000012.10:g.47661833A>T | NCBI36 |
NG_033141.1:g.8331A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*143A>T MANE Select | ENSP00000293549.3:n.*143A>T | |
NM_005430.3:c.*143A>T | NP_005421.1:n.*143A>T | |
NM_005430.4:c.*143A>T MANE Select | NP_005421.1:n.*143A>T |