HGVS | Genome Assembly |
---|---|
NC_000022.11:g.36564710G>C , CM000684.2:g.36564710G>C | GRCh38 |
NC_000022.10:g.36960757G>C , CM000684.1:g.36960757G>C | GRCh37 |
NC_000022.9:g.35290703G>C | NCBI36 |
NG_031861.1:g.142934C>G | |
NG_031861.2:g.143149C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300105.7:c.613C>G MANE Select | ENSP00000300105.6:p.His205Asp | |
ENST00000300105.6:c.613C>G | ENSP00000300105.6:p.His205Asp | |
NM_006078.3:c.613C>G | NP_006069.1:p.His205Asp | |
NM_006078.4:c.613C>G | NP_006069.1:p.His205Asp | |
XM_017028531.2:c.355C>G | XP_016884020.1:p.His119Asp | |
NM_001379051.1:c.544C>G | NP_001365980.1:p.His182Asp | |
NM_006078.5:c.613C>G MANE Select | NP_006069.1:p.His205Asp | |
NR_166440.1:n.1979C>G |