HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177093143G>C , CM000667.2:g.177093143G>C | GRCh38 |
NC_000005.9:g.176520144G>C , CM000667.1:g.176520144G>C | GRCh37 |
NC_000005.8:g.176452750G>C | NCBI36 |
NG_012067.1:g.11224G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000292408.9:c.1063G>C MANE Select | ENSP00000292408.4:p.Asp355His | |
ENST00000292408.8:c.1063G>C | ENSP00000292408.4:p.Asp355His | |
ENST00000393637.5:c.1058-189G>C | ENSP00000377254.1:n.1058-189G>C | |
ENST00000393648.6:c.1063G>C | ENSP00000377259.2:p.Asp355His | |
ENST00000502906.5:c.1063G>C | ENSP00000424960.1:p.Asp355His | |
ENST00000508139.1:n.367G>C | ||
NM_001291980.1:c.1063G>C | NP_001278909.1:p.Asp355His | |
NM_002011.4:c.1063G>C | NP_002002.3:p.Asp355His | |
NM_022963.3:c.1058-189G>C | NP_075252.2:n.1058-189G>C | |
NM_213647.2:c.1063G>C | NP_998812.1:p.Asp355His | |
XM_005265838.2:c.1063G>C | XP_005265895.1:p.Asp355His | |
XM_011534464.1:c.1156G>C | XP_011532766.1:p.Asp386His | |
XM_011534465.1:c.745G>C | XP_011532767.1:p.Asp249His | |
XR_941090.1:n.1108G>C | ||
NM_001354984.1:c.1063G>C | NP_001341913.1:p.Asp355His | |
NM_213647.3:c.1063G>C MANE Select | NP_998812.1:p.Asp355His | |
NM_001291980.2:c.1063G>C | NP_001278909.1:p.Asp355His | |
NM_001354984.2:c.1063G>C | NP_001341913.1:p.Asp355His | |
NM_002011.5:c.1063G>C | NP_002002.3:p.Asp355His |