HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189045904C>G , CM000664.2:g.189045904C>G | GRCh38 |
NC_000002.11:g.189910630C>G , CM000664.1:g.189910630C>G | GRCh37 |
NC_000002.10:g.189618875C>G | NCBI36 |
NG_011799.1:g.138976G>C | |
NG_011799.2:g.138976G>C | |
NG_011799.3:g.184398G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.3205G>C MANE Select | ENSP00000364000.3:p.Asp1069His | |
ENST00000374866.7:c.3205G>C | ENSP00000364000.3:p.Asp1069His | |
ENST00000618828.1:c.2044G>C | ENSP00000482184.1:p.Asp682His | |
NM_000393.3:c.3205G>C | NP_000384.2:p.Asp1069His | |
XM_011510573.1:c.3067G>C | XP_011508875.1:p.Asp1023His | |
NM_000393.4:c.3205G>C | NP_000384.2:p.Asp1069His | |
XM_011510573.3:c.3067G>C | XP_011508875.1:p.Asp1023His | |
NM_000393.5:c.3205G>C MANE Select | NP_000384.2:p.Asp1069His |