HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52675386C>T , CM000674.2:g.52675386C>T | GRCh38 |
NC_000012.11:g.53069170C>T , CM000674.1:g.53069170C>T | GRCh37 |
NC_000012.10:g.51355437C>T | NCBI36 |
NG_008364.1:g.10022G>A | |
NG_008364.2:g.10022G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252244.3:c.1742G>A MANE Select | ENSP00000252244.3:p.Gly581Glu | |
NM_006121.3:c.1742G>A | NP_006112.3:p.Gly581Glu | |
NM_006121.4:c.1742G>A MANE Select | NP_006112.3:p.Gly581Glu |