HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43417431G>A , CM000683.2:g.43417431G>A | GRCh38 |
NG_052009.1:g.14702C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270162.8:c.1976+112C>T MANE Select | ENSP00000270162.6:n.1976+112C>T | |
ENST00000270162.6:c.1976+112C>T | ENSP00000270162.6:n.1976+112C>T | |
NM_173354.3:c.1976+112C>T | NP_775490.2:n.1976+112C>T | |
XM_011529474.1:c.1829+112C>T | XP_011527776.1:n.1829+112C>T | |
NM_173354.4:c.1976+112C>T | NP_775490.2:n.1976+112C>T | |
XM_011529474.2:c.1829+112C>T | XP_011527776.1:n.1829+112C>T | |
NM_173354.5:c.1976+112C>T MANE Select | NP_775490.2:n.1976+112C>T |