HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184512A>T , CM000679.2:g.42184512A>T | GRCh38 |
NC_000017.10:g.40336530A>T , CM000679.1:g.40336530A>T | GRCh37 |
NC_000017.9:g.37590056A>T | NCBI36 |
NG_011448.1:g.5941T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.38T>A MANE Select | ENSP00000293330.1:p.Val13Glu | |
NM_001524.1:c.38T>A MANE Select | NP_001515.1:p.Val13Glu |