HGVS | Genome Assembly |
---|---|
NC_000007.14:g.76346269C>T , CM000669.2:g.76346269C>T | GRCh38 |
NC_000007.13:g.75975586C>T , CM000669.1:g.75975586C>T | GRCh37 |
NC_000007.12:g.75813522C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307630.5:c.87+12453G>A MANE Select | ENSP00000306330.3:n.87+12453G>A | |
ENST00000307630.4:c.87+12453G>A | ENSP00000306330.3:n.87+12453G>A | |
NM_012479.3:c.87+12453G>A | NP_036611.2:n.87+12453G>A | |
NM_012479.4:c.87+12453G>A MANE Select | NP_036611.2:n.87+12453G>A |