HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213566C>A , CM000667.2:g.1213566C>A | GRCh38 |
NC_000005.9:g.1213681C>A , CM000667.1:g.1213681C>A | GRCh37 |
NC_000005.8:g.1266681C>A | NCBI36 |
NG_008282.1:g.16972C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.767C>A MANE Select | ENSP00000305302.10:p.Thr256Lys | |
ENST00000304460.10:c.767C>A | ENSP00000305302.10:p.Thr256Lys | |
ENST00000515652.5:c.675C>A | ENSP00000425701.1:p.His225Gln | |
NM_001003841.2:c.767C>A | NP_001003841.1:p.Thr256Lys | |
NM_001003841.3:c.767C>A MANE Select | NP_001003841.1:p.Thr256Lys |