HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658574G>C , CM000682.2:g.10658574G>C | GRCh38 |
NC_000020.10:g.10639222G>C , CM000682.1:g.10639222G>C | GRCh37 |
NC_000020.9:g.10587222G>C | NCBI36 |
NG_007496.1:g.20473C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254958.10:c.588C>G MANE Select | ENSP00000254958.4:p.Cys196Trp | |
ENST00000254958.9:c.588C>G | ENSP00000254958.4:p.Cys196Trp | |
ENST00000423891.6:n.454C>G | ||
NM_000214.2:c.588C>G | NP_000205.1:p.Cys196Trp | |
NM_000214.3:c.588C>G MANE Select | NP_000205.1:p.Cys196Trp |