HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145975T>C , CM000670.2:g.38145975T>C | GRCh38 |
NC_000008.10:g.38003493T>C , CM000670.1:g.38003493T>C | GRCh37 |
NC_000008.9:g.38122650T>C | NCBI36 |
NG_011827.1:g.10108A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.638A>G MANE Select | ENSP00000276449.3:p.Lys213Arg | |
ENST00000276449.8:c.638A>G | ENSP00000276449.3:p.Lys213Arg | |
ENST00000520114.1:n.1125A>G | ||
ENST00000522050.1:c.574A>G | ||
NM_000349.2:c.638A>G | NP_000340.2:p.Lys213Arg | |
XM_006716392.1:c.638A>G | XP_006716455.1:p.Lys213Arg | |
NM_000349.3:c.638A>G MANE Select | NP_000340.2:p.Lys213Arg |