HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159305916G>A , CM000663.2:g.159305916G>A | GRCh38 |
NC_000001.10:g.159275706G>A , CM000663.1:g.159275706G>A | GRCh37 |
NC_000001.9:g.157542330G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000693622.1:c.332-72G>A MANE Select | ENSP00000509626.1:n.332-72G>A | |
ENST00000368114.1:c.233-72G>A | ENSP00000357096.1:n.233-72G>A | |
ENST00000368115.5:c.332-72G>A | ENSP00000357097.1:n.332-72G>A | |
NM_002001.3:c.332-72G>A | NP_001992.1:n.332-72G>A | |
NM_001387280.1:c.332-72G>A MANE Select | NP_001374209.1:n.332-72G>A | |
NM_001387281.1:c.77-72G>A | NP_001374210.1:n.77-72G>A | |
NM_001387282.1:c.233-72G>A | NP_001374211.1:n.233-72G>A | |
NM_002001.4:c.332-72G>A | NP_001992.1:n.332-72G>A |