HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38144383A>G , CM000670.2:g.38144383A>G | GRCh38 |
NC_000008.10:g.38001901A>G , CM000670.1:g.38001901A>G | GRCh37 |
NC_000008.9:g.38121058A>G | NCBI36 |
NG_011827.1:g.11700T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.748T>C MANE Select | ENSP00000276449.3:p.Trp250Arg | |
ENST00000276449.8:c.748T>C | ENSP00000276449.3:p.Trp250Arg | |
ENST00000520114.1:n.2717T>C | ||
ENST00000522050.1:c.590T>C | ||
NM_000349.2:c.748T>C | NP_000340.2:p.Trp250Arg | |
XM_006716392.1:c.654T>C | XP_006716455.1:p.Gly218= | |
NM_000349.3:c.748T>C MANE Select | NP_000340.2:p.Trp250Arg |