HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7525099G>C , CM000681.2:g.7525099G>C | GRCh38 |
NC_000019.9:g.7589985G>C , CM000681.1:g.7589985G>C | GRCh37 |
NC_000019.8:g.7495985G>C | NCBI36 |
NG_015806.1:g.7490G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.170G>C MANE Select | ENSP00000264079.5:p.Arg57Pro | |
ENST00000264079.10:c.170G>C | ENSP00000264079.5:p.Arg57Pro | |
ENST00000394321.9:n.250G>C | ||
ENST00000596390.1:n.286G>C | ||
ENST00000601003.1:c.170G>C | ENSP00000469074.1:p.Arg57Pro | |
NM_020533.2:c.170G>C | NP_065394.1:p.Arg57Pro | |
NM_020533.3:c.170G>C MANE Select | NP_065394.1:p.Arg57Pro |