HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719325T>A , CM000667.2:g.71719325T>A | GRCh38 |
NC_000005.9:g.71015152T>A , CM000667.1:g.71015152T>A | GRCh37 |
NC_000005.8:g.71050908T>A | NCBI36 |
NG_015988.1:g.5163T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.32T>A MANE Select | ENSP00000296777.4:p.Leu11His | |
ENST00000296777.4:c.32T>A | ENSP00000296777.4:p.Leu11His | |
NM_004291.3:c.32T>A | NP_004282.1:p.Leu11His | |
NM_004291.4:c.32T>A MANE Select | NP_004282.1:p.Leu11His |