HGVS | Genome Assembly |
---|---|
NC_000017.11:g.36071135T>C , CM000679.2:g.36071135T>C | GRCh38 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000616054.2:c.*94T>C MANE Select | ENSP00000479955.1:n.*94T>C | |
ENST00000616054.1:c.*94T>C | ENSP00000479955.1:n.*94T>C | |
ENST00000616474.1:n.370T>C | ||
NM_002988.3:c.*94T>C | NP_002979.1:n.*94T>C | |
NM_002988.4:c.*94T>C MANE Select | NP_002979.1:n.*94T>C |