HGVS | Genome Assembly |
---|---|
NC_000003.12:g.37562564C>T , CM000665.2:g.37562564C>T | GRCh38 |
NC_000003.11:g.37604055C>T , CM000665.1:g.37604055C>T | GRCh37 |
NC_000003.10:g.37579059C>T | NCBI36 |
NG_016166.1:g.115243C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264741.10:c.1689+19979C>T MANE Select | ENSP00000264741.5:n.1689+19979C>T | |
ENST00000264741.9:c.1689+19979C>T | ENSP00000264741.5:n.1689+19979C>T | |
ENST00000422441.5:c.1689+19979C>T | ENSP00000397258.1:n.1689+19979C>T | |
NM_002207.2:c.1689+19979C>T | NP_002198.2:n.1689+19979C>T | |
NM_002207.3:c.1689+19979C>T MANE Select | NP_002198.2:n.1689+19979C>T |