HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184640T>C , CM000679.2:g.42184640T>C | GRCh38 |
NC_000017.10:g.40336658T>C , CM000679.1:g.40336658T>C | GRCh37 |
NC_000017.9:g.37590184T>C | NCBI36 |
NG_011448.1:g.5813A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.22-112A>G MANE Select | ENSP00000293330.1:n.22-112A>G | |
NM_001524.1:c.22-112A>G MANE Select | NP_001515.1:n.22-112A>G |