HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177093150C>A , CM000667.2:g.177093150C>A | GRCh38 |
NC_000005.9:g.176520151C>A , CM000667.1:g.176520151C>A | GRCh37 |
NC_000005.8:g.176452757C>A | NCBI36 |
NG_012067.1:g.11231C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000292408.9:c.1070C>A MANE Select | ENSP00000292408.4:p.Thr357Lys | |
ENST00000292408.8:c.1070C>A | ENSP00000292408.4:p.Thr357Lys | |
ENST00000393637.5:c.1058-182C>A | ENSP00000377254.1:n.1058-182C>A | |
ENST00000393648.6:c.1070C>A | ENSP00000377259.2:p.Thr357Lys | |
ENST00000502906.5:c.1070C>A | ENSP00000424960.1:p.Thr357Lys | |
ENST00000508139.1:n.374C>A | ||
NM_001291980.1:c.1070C>A | NP_001278909.1:p.Thr357Lys | |
NM_002011.4:c.1070C>A | NP_002002.3:p.Thr357Lys | |
NM_022963.3:c.1058-182C>A | NP_075252.2:n.1058-182C>A | |
NM_213647.2:c.1070C>A | NP_998812.1:p.Thr357Lys | |
XM_005265838.2:c.1070C>A | XP_005265895.1:p.Thr357Lys | |
XM_011534464.1:c.1163C>A | XP_011532766.1:p.Thr388Lys | |
XM_011534465.1:c.752C>A | XP_011532767.1:p.Thr251Lys | |
XR_941090.1:n.1115C>A | ||
NM_001354984.1:c.1070C>A | NP_001341913.1:p.Thr357Lys | |
NM_213647.3:c.1070C>A MANE Select | NP_998812.1:p.Thr357Lys | |
NM_001291980.2:c.1070C>A | NP_001278909.1:p.Thr357Lys | |
NM_001354984.2:c.1070C>A | NP_001341913.1:p.Thr357Lys | |
NM_002011.5:c.1070C>A | NP_002002.3:p.Thr357Lys |