HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240873995T>A , CM000664.2:g.240873995T>A | GRCh38 |
NC_000002.11:g.241813412T>A , CM000664.1:g.241813412T>A | GRCh37 |
NC_000002.10:g.241462085T>A | NCBI36 |
NG_008005.1:g.10251T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.613T>A MANE Select | ENSP00000302620.3:p.Ser205Thr | |
ENST00000307503.3:c.613T>A | ENSP00000302620.3:p.Ser205Thr | |
ENST00000476698.1:n.332+946T>A | ||
NM_000030.2:c.613T>A | NP_000021.1:p.Ser205Thr | |
NM_000030.3:c.613T>A MANE Select | NP_000021.1:p.Ser205Thr |