HGVS | Genome Assembly |
---|---|
NC_000006.12:g.121447116T>A , CM000668.2:g.121447116T>A | GRCh38 |
NC_000006.11:g.121768262T>A , CM000668.1:g.121768262T>A | GRCh37 |
NC_000006.10:g.121809961T>A | NCBI36 |
NG_008308.1:g.16518T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282561.4:c.269T>A MANE Select | ENSP00000282561.3:p.Leu90His | |
ENST00000647564.1:c.269T>A | ENSP00000497565.1:p.Leu90His | |
ENST00000649003.1:c.269T>A | ENSP00000497283.1:p.Leu90His | |
ENST00000650427.1:c.269T>A | ENSP00000497367.1:p.Leu90His | |
ENST00000282561.3:c.269T>A | ENSP00000282561.3:p.Leu90His | |
NM_000165.4:c.269T>A | NP_000156.1:p.Leu90His | |
NM_000165.5:c.269T>A MANE Select | NP_000156.1:p.Leu90His |