HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184463G>A , CM000679.2:g.42184463G>A | GRCh38 |
NC_000017.10:g.40336481G>A , CM000679.1:g.40336481G>A | GRCh37 |
NC_000017.9:g.37590007G>A | NCBI36 |
NG_011448.1:g.5990C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.87C>T MANE Select | ENSP00000293330.1:p.Ser29= | |
NM_001524.1:c.87C>T MANE Select | NP_001515.1:p.Ser29= |