HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42062931C>G , CM000684.2:g.42062931C>G | GRCh38 |
NC_000022.10:g.42458935C>G , CM000684.1:g.42458935C>G | GRCh37 |
NC_000022.9:g.40788881C>G | NCBI36 |
NG_009247.1:g.12912G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396398.8:c.853G>C MANE Select | ENSP00000379680.3:p.Asp285His | |
ENST00000396398.7:c.853G>C | ENSP00000379680.3:p.Asp285His | |
ENST00000402937.1:c.853G>C | ENSP00000384603.1:p.Asp285His | |
ENST00000403363.5:c.853G>C | ENSP00000385283.1:p.Asp285His | |
NM_000262.2:c.853G>C | NP_000253.1:p.Asp285His | |
XM_005261615.3:c.853G>C | XP_005261672.1:p.Asp285His | |
XM_005261616.3:c.853G>C | XP_005261673.1:p.Asp285His | |
NM_001362848.1:c.853G>C | NP_001349777.1:p.Asp285His | |
NM_001362850.1:c.853G>C | NP_001349779.1:p.Asp285His | |
NM_000262.3:c.853G>C MANE Select | NP_000253.1:p.Asp285His |