HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119434A>T , CM000664.2:g.176119434A>T | GRCh38 |
NC_000002.11:g.176984162A>T , CM000664.1:g.176984162A>T | GRCh37 |
NC_000002.10:g.176692408A>T | NCBI36 |
NG_008133.2:g.12671A>T , LRG_246:g.12671A>T | |
NG_009225.1:g.1750A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.*203A>T MANE Select | ENSP00000249501.4:n.*203A>T | |
ENST00000249501.4:c.*203A>T | ENSP00000249501.4:n.*203A>T | |
NM_002148.3:c.*203A>T , LRG_246t1:c.*203A>T | NP_002139.2:n.*203A>T | |
NM_002148.4:c.*203A>T MANE Select | NP_002139.2:n.*203A>T |