HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119525G>T , CM000664.2:g.176119525G>T | GRCh38 |
NC_000002.11:g.176984253G>T , CM000664.1:g.176984253G>T | GRCh37 |
NC_000002.10:g.176692499G>T | NCBI36 |
NG_008133.2:g.12762G>T , LRG_246:g.12762G>T | |
NG_009225.1:g.1841G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.*294G>T MANE Select | ENSP00000249501.4:n.*294G>T | |
ENST00000249501.4:c.*294G>T | ENSP00000249501.4:n.*294G>T | |
NM_002148.3:c.*294G>T , LRG_246t1:c.*294G>T | NP_002139.2:n.*294G>T | |
NM_002148.4:c.*294G>T MANE Select | NP_002139.2:n.*294G>T |