HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38253038C>A , CM000677.2:g.38253038C>A | GRCh38 |
NC_000015.9:g.38545239C>A , CM000677.1:g.38545239C>A | GRCh37 |
NC_000015.8:g.36332531C>A | NCBI36 |
NG_008980.1:g.5188C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299084.9:c.-148C>A MANE Select | ENSP00000299084.4:n.-148C>A | |
ENST00000299084.8:c.-148C>A | ENSP00000299084.4:n.-148C>A | |
ENST00000561205.1:n.191C>A | ||
NM_152594.2:c.-148C>A | NP_689807.1:n.-148C>A | |
XM_005254202.2:c.-148C>A | XP_005254259.1:n.-148C>A | |
XM_005254203.3:c.-195C>A | XP_005254260.1:n.-195C>A | |
XM_005254202.3:c.-148C>A | XP_005254259.1:n.-148C>A | |
XR_001751484.1:n.87+529G>T | ||
NM_152594.3:c.-148C>A MANE Select | NP_689807.1:n.-148C>A |