HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23222438A>C , CM000670.2:g.23222438A>C | GRCh38 |
NC_000008.10:g.23079951A>C , CM000670.1:g.23079951A>C | GRCh37 |
NC_000008.9:g.23135896A>C | NCBI36 |
NG_032107.1:g.7730T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.306+2318T>G MANE Select | ENSP00000221132.3:n.306+2318T>G | |
ENST00000221132.7:c.306+2318T>G | ENSP00000221132.3:n.306+2318T>G | |
ENST00000524158.5:c.-301+1995T>G | ENSP00000428884.1:n.-301+1995T>G | |
ENST00000613472.1:c.31+2593T>G | ENSP00000480778.1:n.31+2593T>G | |
NM_003844.3:c.306+2318T>G | NP_003835.3:n.306+2318T>G | |
NM_003844.4:c.306+2318T>G MANE Select | NP_003835.3:n.306+2318T>G |