HGVS | Genome Assembly |
---|---|
NC_000009.12:g.37425994G>A , CM000671.2:g.37425994G>A | GRCh38 |
NC_000009.11:g.37425991G>A , CM000671.1:g.37425991G>A | GRCh37 |
NC_000009.10:g.37415991G>A | NCBI36 |
NG_008135.1:g.8285G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318158.11:c.287G>A MANE Select | ENSP00000313432.6:p.Arg96His | |
ENST00000318158.10:c.287G>A | ENSP00000313432.6:p.Arg96His | |
ENST00000377824.8:n.324G>A | ||
ENST00000460882.5:n.314G>A | ||
ENST00000487399.5:n.296G>A | ||
ENST00000491488.5:n.110-2490G>A | ||
ENST00000493368.5:n.344G>A | ||
ENST00000607784.1:c.287G>A | ENSP00000475569.1:p.Arg96His | |
NM_012203.1:c.287G>A | NP_036335.1:p.Arg96His | |
XM_005251631.1:c.84-2490G>A | XP_005251688.1:n.84-2490G>A | |
XM_011518073.1:c.-476G>A | XP_011516375.1:n.-476G>A | |
XR_929374.1:n.372G>A | ||
XM_017015320.2:c.287G>A | XP_016870809.1:p.Arg96His | |
XM_017015321.2:c.287G>A | XP_016870810.1:p.Arg96His | |
XM_017015323.2:c.-476G>A | XP_016870812.1:n.-476G>A | |
XM_024447716.1:c.560G>A | XP_024303484.1:p.Arg187His | |
XM_024447717.1:c.560G>A | XP_024303485.1:p.Arg187His | |
XR_002956828.1:n.575G>A | ||
XR_002956829.1:n.575G>A | ||
XR_002956830.1:n.346G>A | ||
XR_002956831.1:n.139-2490G>A | ||
XR_002956832.1:n.346G>A | ||
NM_012203.2:c.287G>A MANE Select | NP_036335.1:p.Arg96His |