HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535745C= , CM000663.2:g.1535745C= | GRCh38 |
NC_000001.10:g.1471125C= , CM000663.1:g.1471125C= | GRCh37 |
NC_000001.9:g.1460988C= | NCBI36 |
NG_041807.1:g.9616G= | |
NG_053035.1:g.28603C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378733.9:c.217G= MANE Select | ENSP00000368007.4:p.Ala73= | |
ENST00000378733.8:c.217G= | ENSP00000368007.4:p.Ala73= | |
ENST00000425828.1:c.217G= | ENSP00000400311.1:p.Ala73= | |
NM_001114748.1:c.217G= | NP_001108220.1:p.Ala73= | |
NM_001114748.2:c.217G= MANE Select | NP_001108220.1:p.Ala73= |