HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86739718C>G , CM000670.2:g.86739718C>G | GRCh38 |
NC_000008.10:g.87751946C>G , CM000670.1:g.87751946C>G | GRCh37 |
NC_000008.9:g.87821062C>G | NCBI36 |
NG_016980.1:g.8958G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.148G>C MANE Select | ENSP00000316605.5:p.Glu50Gln | |
ENST00000681746.1:c.148G>C | ENSP00000505959.1:p.Glu50Gln | |
ENST00000320005.5:c.148G>C | ENSP00000316605.5:p.Glu50Gln | |
ENST00000519777.1:n.130G>C | ||
NM_019098.4:c.148G>C | NP_061971.3:p.Glu50Gln | |
NM_019098.5:c.148G>C MANE Select | NP_061971.3:p.Glu50Gln |