HGVS | Genome Assembly |
---|---|
NC_000017.11:g.10127714T>G , CM000679.2:g.10127714T>G | GRCh38 |
NC_000017.10:g.10031031T>G , CM000679.1:g.10031031T>G | GRCh37 |
NC_000017.9:g.9971756T>G | NCBI36 |
NG_029502.1:g.75838A>C | |
NG_029502.2:g.75838A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432992.7:c.183+70494A>C MANE Select | ENSP00000407552.2:n.183+70494A>C | |
ENST00000432992.6:c.183+70494A>C | ENSP00000407552.2:n.183+70494A>C | |
NM_201433.1:c.183+70494A>C | NP_958839.1:n.183+70494A>C | |
NM_201433.2:c.183+70494A>C MANE Select | NP_958839.1:n.183+70494A>C |