HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981644G>A , CM000674.2:g.48981644G>A | GRCh38 |
NC_000012.11:g.49375427G>A , CM000674.1:g.49375427G>A | GRCh37 |
NC_000012.10:g.47661694G>A | NCBI36 |
NG_033141.1:g.8192G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*4G>A MANE Select | ENSP00000293549.3:n.*4G>A | |
ENST00000293549.3:c.*4G>A | ENSP00000293549.3:n.*4G>A | |
NM_005430.3:c.*4G>A | NP_005421.1:n.*4G>A | |
NM_005430.4:c.*4G>A MANE Select | NP_005421.1:n.*4G>A |