HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184913711T>G , CM000664.2:g.184913711T>G | GRCh38 |
NC_000002.11:g.185778438T>G , CM000664.1:g.185778438T>G | GRCh37 |
NC_000002.10:g.185486683T>G | NCBI36 |
NG_046950.1:g.320346T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000302277.7:c.256-19892T>G MANE Select | ENSP00000303252.6:n.256-19892T>G | |
ENST00000302277.6:c.256-19892T>G | ENSP00000303252.6:n.256-19892T>G | |
ENST00000613975.1:c.1-19892T>G | ENSP00000483032.1:n.1-19892T>G | |
NM_194250.1:c.256-19892T>G | NP_919226.1:n.256-19892T>G | |
NM_194250.2:c.256-19892T>G MANE Select | NP_919226.1:n.256-19892T>G |