HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586461C>T , CM000679.2:g.41586461C>T | GRCh38 |
NC_000017.10:g.39742713C>T , CM000679.1:g.39742713C>T | GRCh37 |
NC_000017.9:g.36996239C>T | NCBI36 |
NG_008624.1:g.5435G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.374G>A MANE Select | ENSP00000167586.6:p.Arg125His | |
ENST00000167586.6:c.374G>A | ENSP00000167586.6:p.Arg125His | |
NM_000526.4:c.374G>A | NP_000517.2:p.Arg125His | |
NM_000526.5:c.374G>A MANE Select | NP_000517.3:p.Arg125His |