HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186122897C>A , CM000663.2:g.186122897C>A | GRCh38 |
NC_000001.10:g.186092029C>A , CM000663.1:g.186092029C>A | GRCh37 |
NC_000001.9:g.184358652C>A | NCBI36 |
NG_011841.1:g.393347C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271588.9:c.12230-54C>A MANE Select | ENSP00000271588.4:n.12230-54C>A | |
ENST00000271588.8:c.12230-54C>A | ENSP00000271588.4:n.12230-54C>A | |
NM_031935.2:c.12230-54C>A | NP_114141.2:n.12230-54C>A | |
XM_011510037.1:c.11945-54C>A | XP_011508339.1:n.11945-54C>A | |
XM_011510038.1:c.12230-54C>A | XP_011508340.1:n.12230-54C>A | |
XM_011510039.1:c.12230-54C>A | XP_011508341.1:n.12230-54C>A | |
XM_011510038.3:c.12230-54C>A | XP_011508340.1:n.12230-54C>A | |
XM_017002437.1:c.10253-54C>A | XP_016857926.1:n.10253-54C>A | |
NM_031935.3:c.12230-54C>A MANE Select | NP_114141.2:n.12230-54C>A |