HGVS | Genome Assembly |
---|---|
NC_000011.10:g.130209734G>C , CM000673.2:g.130209734G>C | GRCh38 |
NC_000011.9:g.130079629G>C , CM000673.1:g.130079629G>C | GRCh37 |
NC_000011.8:g.129584839G>C | NCBI36 |
NG_012132.1:g.54948G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000278742.6:c.2479G>C MANE Select | ENSP00000278742.5:p.Gly827Arg | |
ENST00000278742.5:c.2479G>C | ENSP00000278742.5:p.Gly827Arg | |
NM_021978.3:c.2479G>C | NP_068813.1:p.Gly827Arg | |
NM_021978.4:c.2479G>C MANE Select | NP_068813.1:p.Gly827Arg |