HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184664T>G , CM000679.2:g.42184664T>G | GRCh38 |
NC_000017.10:g.40336682T>G , CM000679.1:g.40336682T>G | GRCh37 |
NC_000017.9:g.37590208T>G | NCBI36 |
NG_011448.1:g.5789A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.22-136A>C MANE Select | ENSP00000293330.1:n.22-136A>C | |
NM_001524.1:c.22-136A>C MANE Select | NP_001515.1:n.22-136A>C |