HGVS | Genome Assembly |
---|---|
NC_000010.11:g.100482273G>A , CM000672.2:g.100482273G>A | GRCh38 |
NC_000010.10:g.102242030G>A , CM000672.1:g.102242030G>A | GRCh37 |
NC_000010.9:g.102232020G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343737.6:c.513G>A MANE Select | ENSP00000340677.5:p.Ala171= | |
ENST00000343737.5:c.513G>A | ENSP00000340677.5:p.Ala171= | |
NM_003393.3:c.513G>A | NP_003384.2:p.Ala171= | |
NM_003393.4:c.513G>A MANE Select | NP_003384.2:p.Ala171= |