HGVS | Genome Assembly |
---|---|
NC_000007.14:g.99891948G>A , CM000669.2:g.99891948G>A | GRCh38 |
NC_000007.13:g.99489571G>A , CM000669.1:g.99489571G>A | GRCh37 |
NC_000007.12:g.99327507G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000349062.7:c.*215C>T MANE Select | ENSP00000275736.4:n.*215C>T | |
ENST00000349062.6:c.*215C>T | ENSP00000275736.4:n.*215C>T | |
ENST00000355947.6:c.*215C>T | ENSP00000348216.2:n.*215C>T | |
ENST00000447480.5:c.545+11270C>T | ||
NM_033017.3:c.*215C>T | NP_148977.2:n.*215C>T | |
NM_033091.2:c.*215C>T | NP_149082.1:n.*215C>T | |
NM_033017.4:c.*215C>T | NP_148977.2:n.*215C>T | |
NM_033091.3:c.*215C>T MANE Select | NP_149082.1:n.*215C>T |