HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148994668C>A , CM000667.2:g.148994668C>A | GRCh38 |
NC_000005.9:g.148374231C>A , CM000667.1:g.148374231C>A | GRCh37 |
NC_000005.8:g.148354424C>A | NCBI36 |
NG_007947.2:g.73507G>T , LRG_269:g.73507G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000515425.6:c.*10043G>T MANE Select | ENSP00000423660.1:n.*10043G>T | |
ENST00000504690.5:c.*12+9058G>T | ENSP00000425627.1:n.*12+9058G>T | |
ENST00000510350.1:n.231+12213G>T | ||
NM_024577.3:c.*10043G>T , LRG_269t1:c.*10043G>T | NP_078853.2:n.*10043G>T | |
NM_024577.4:c.*10043G>T MANE Select | NP_078853.2:n.*10043G>T |