HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177093155A>C , CM000667.2:g.177093155A>C | GRCh38 |
NC_000005.9:g.176520156A>C , CM000667.1:g.176520156A>C | GRCh37 |
NC_000005.8:g.176452762A>C | NCBI36 |
NG_012067.1:g.11236A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000292408.9:c.1075A>C MANE Select | ENSP00000292408.4:p.Thr359Pro | |
ENST00000292408.8:c.1075A>C | ENSP00000292408.4:p.Thr359Pro | |
ENST00000393637.5:c.1058-177A>C | ENSP00000377254.1:n.1058-177A>C | |
ENST00000393648.6:c.1075A>C | ENSP00000377259.2:p.Thr359Pro | |
ENST00000502906.5:c.1075A>C | ENSP00000424960.1:p.Thr359Pro | |
ENST00000508139.1:n.379A>C | ||
NM_001291980.1:c.1075A>C | NP_001278909.1:p.Thr359Pro | |
NM_002011.4:c.1075A>C | NP_002002.3:p.Thr359Pro | |
NM_022963.3:c.1058-177A>C | NP_075252.2:n.1058-177A>C | |
NM_213647.2:c.1075A>C | NP_998812.1:p.Thr359Pro | |
XM_005265838.2:c.1075A>C | XP_005265895.1:p.Thr359Pro | |
XM_011534464.1:c.1168A>C | XP_011532766.1:p.Thr390Pro | |
XM_011534465.1:c.757A>C | XP_011532767.1:p.Thr253Pro | |
XR_941090.1:n.1120A>C | ||
NM_001354984.1:c.1075A>C | NP_001341913.1:p.Thr359Pro | |
NM_213647.3:c.1075A>C MANE Select | NP_998812.1:p.Thr359Pro | |
NM_001291980.2:c.1075A>C | NP_001278909.1:p.Thr359Pro | |
NM_001354984.2:c.1075A>C | NP_001341913.1:p.Thr359Pro | |
NM_002011.5:c.1075A>C | NP_002002.3:p.Thr359Pro |