HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67585212A>G , CM000673.2:g.67585212A>G | GRCh38 |
NC_000011.9:g.67352683A>G , CM000673.1:g.67352683A>G | GRCh37 |
NC_000011.8:g.67109259A>G | NCBI36 |
NG_012075.1:g.6618A>G , LRG_723:g.6618A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.307A>G | ENSP00000381604.1:p.Lys103Glu | |
ENST00000398606.10:c.307A>G MANE Select | ENSP00000381607.3:p.Lys103Glu | |
ENST00000646888.1:c.*23A>G | ENSP00000494477.1:n.*23A>G | |
ENST00000398603.5:c.307A>G | ENSP00000381604.1:p.Lys103Glu | |
ENST00000398606.7:c.307A>G | ENSP00000381607.3:p.Lys103Glu | |
ENST00000467591.1:n.418A>G | ||
ENST00000494593.1:n.1102A>G | ||
ENST00000498765.5:c.370A>G | ||
NM_000852.3:c.307A>G , LRG_723t1:c.307A>G | NP_000843.1:p.Lys103Glu | |
NM_000852.4:c.307A>G MANE Select | NP_000843.1:p.Lys103Glu |