HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085687T>C , CM000666.2:g.186085687T>C | GRCh38 |
NC_000004.11:g.187006841T>C , CM000666.1:g.187006841T>C | GRCh37 |
NC_000004.10:g.187243835T>C | NCBI36 |
NG_007278.1:g.21533T>C , LRG_117:g.21533T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698352.1:c.*3081T>C | ENSP00000513675.1:n.*3081T>C | |
ENST00000698353.1:n.3404T>C | ||
ENST00000698354.1:c.*814T>C | ENSP00000513676.1:n.*814T>C | |
ENST00000296795.8:c.*814T>C MANE Select | ENSP00000296795.3:n.*814T>C | |
ENST00000296795.7:c.*814T>C | ENSP00000296795.2:n.*814T>C | |
NM_003265.3:c.*814T>C MANE Select | NP_003256.1:n.*814T>C |