HGVS | Genome Assembly |
---|---|
NC_000004.12:g.185144813T>A , CM000666.2:g.185144813T>A | GRCh38 |
NC_000004.11:g.186065967T>A , CM000666.1:g.186065967T>A | GRCh37 |
NC_000004.10:g.186302961T>A | NCBI36 |
NG_013001.1:g.6551T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281456.11:c.161T>A MANE Select | ENSP00000281456.5:p.Ile54Asn | |
ENST00000281456.10:c.161T>A | ENSP00000281456.5:p.Ile54Asn | |
ENST00000491736.1:c.161T>A | ENSP00000476711.1:p.Ile54Asn | |
NM_001151.3:c.161T>A | NP_001142.2:p.Ile54Asn | |
NM_001151.4:c.161T>A MANE Select | NP_001142.2:p.Ile54Asn |