HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786240G>C , CM000681.2:g.18786240G>C | GRCh38 |
NC_000019.9:g.18897050G>C , CM000681.1:g.18897050G>C | GRCh37 |
NC_000019.8:g.18758050G>C | NCBI36 |
NG_007070.1:g.10065C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1306C>G MANE Select | ENSP00000222271.2:p.Gln436Glu | |
ENST00000222271.6:c.1306C>G | ENSP00000222271.2:p.Gln436Glu | |
ENST00000425807.1:c.1147C>G | ENSP00000403792.1:p.Gln383Glu | |
ENST00000542601.6:c.1207C>G | ENSP00000439156.2:p.Gln403Glu | |
ENST00000612179.1:n.556C>G | ||
NM_000095.2:c.1306C>G | NP_000086.2:p.Gln436Glu | |
NM_000095.3:c.1306C>G MANE Select | NP_000086.2:p.Gln436Glu |