HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42958239C>T , CM000677.2:g.42958239C>T | GRCh38 |
NC_000015.9:g.43250437C>T , CM000677.1:g.43250437C>T | GRCh37 |
NC_000015.8:g.41037729C>T | NCBI36 |
NG_012182.1:g.152850G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4758-149G>A MANE Select | ENSP00000290650.4:n.4758-149G>A | |
ENST00000290650.8:c.4758-149G>A | ENSP00000290650.4:n.4758-149G>A | |
NM_174916.2:c.4758-149G>A | NP_777576.1:n.4758-149G>A | |
NM_174916.3:c.4758-149G>A MANE Select | NP_777576.1:n.4758-149G>A |