HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40784086C>A , CM000663.2:g.40784086C>A | GRCh38 |
NC_000001.10:g.41249758C>A , CM000663.1:g.41249758C>A | GRCh37 |
NC_000001.9:g.41022345C>A | NCBI36 |
NG_008139.1:g.5075C>A | |
NG_008139.2:g.5075C>A | |
NG_008139.3:g.5300C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000347132.10:c.-8C>A MANE Select | ENSP00000262916.6:n.-8C>A | |
ENST00000347132.9:c.-8C>A | ENSP00000262916.6:n.-8C>A | |
NM_004700.3:c.-8C>A | NP_004691.2:n.-8C>A | |
NM_172163.2:c.-8C>A | NP_751895.1:n.-8C>A | |
NM_004700.4:c.-8C>A MANE Select | NP_004691.2:n.-8C>A | |
NM_172163.3:c.-8C>A | NP_751895.1:n.-8C>A |