HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583242C>G , CM000679.2:g.41583242C>G | GRCh38 |
NC_000017.10:g.39739494C>G , CM000679.1:g.39739494C>G | GRCh37 |
NC_000017.9:g.36993020C>G | NCBI36 |
NG_008624.1:g.8654G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.1267G>C MANE Select | ENSP00000167586.6:p.Asp423His | |
ENST00000167586.6:c.1267G>C | ENSP00000167586.6:p.Asp423His | |
ENST00000441550.2:n.214G>C | ||
NM_000526.4:c.1267G>C | NP_000517.2:p.Asp423His | |
NM_000526.5:c.1267G>C MANE Select | NP_000517.3:p.Asp423His |