HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119521T>C , CM000664.2:g.176119521T>C | GRCh38 |
NC_000002.11:g.176984249T>C , CM000664.1:g.176984249T>C | GRCh37 |
NC_000002.10:g.176692495T>C | NCBI36 |
NG_008133.2:g.12758T>C , LRG_246:g.12758T>C | |
NG_009225.1:g.1837T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.*290T>C MANE Select | ENSP00000249501.4:n.*290T>C | |
ENST00000249501.4:c.*290T>C | ENSP00000249501.4:n.*290T>C | |
NM_002148.3:c.*290T>C , LRG_246t1:c.*290T>C | NP_002139.2:n.*290T>C | |
NM_002148.4:c.*290T>C MANE Select | NP_002139.2:n.*290T>C |