HGVS | Genome Assembly |
---|---|
NC_000017.11:g.10127715G>C , CM000679.2:g.10127715G>C | GRCh38 |
NC_000017.10:g.10031032G>C , CM000679.1:g.10031032G>C | GRCh37 |
NC_000017.9:g.9971757G>C | NCBI36 |
NG_029502.1:g.75837C>G | |
NG_029502.2:g.75837C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432992.7:c.183+70493C>G MANE Select | ENSP00000407552.2:n.183+70493C>G | |
ENST00000432992.6:c.183+70493C>G | ENSP00000407552.2:n.183+70493C>G | |
NM_201433.1:c.183+70493C>G | NP_958839.1:n.183+70493C>G | |
NM_201433.2:c.183+70493C>G MANE Select | NP_958839.1:n.183+70493C>G |