HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213541A>C , CM000667.2:g.1213541A>C | GRCh38 |
NC_000005.9:g.1213656A>C , CM000667.1:g.1213656A>C | GRCh37 |
NC_000005.8:g.1266656A>C | NCBI36 |
NG_008282.1:g.16947A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.742A>C MANE Select | ENSP00000305302.10:p.Thr248Pro | |
ENST00000304460.10:c.742A>C | ENSP00000305302.10:p.Thr248Pro | |
ENST00000515652.5:c.650A>C | ENSP00000425701.1:p.His217Pro | |
NM_001003841.2:c.742A>C | NP_001003841.1:p.Thr248Pro | |
NM_001003841.3:c.742A>C MANE Select | NP_001003841.1:p.Thr248Pro |