HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56595037T>C , CM000679.2:g.56595037T>C | GRCh38 |
NC_000017.10:g.54672398T>C , CM000679.1:g.54672398T>C | GRCh37 |
NC_000017.9:g.52027397T>C | NCBI36 |
NG_011958.1:g.6339T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.*115T>C MANE Select | ENSP00000328181.4:n.*115T>C | |
ENST00000332822.4:c.*115T>C | ENSP00000328181.4:n.*115T>C | |
NM_005450.4:c.*115T>C | NP_005441.1:n.*115T>C | |
NM_005450.6:c.*115T>C MANE Select | NP_005441.1:n.*115T>C |