HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102527843C>T , CM000673.2:g.102527843C>T | GRCh38 |
NC_000011.9:g.102398574C>T , CM000673.1:g.102398574C>T | GRCh37 |
NC_000011.8:g.101903784C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260227.5:c.249G>A MANE Select | ENSP00000260227.4:p.Gln83= | |
ENST00000260227.4:c.249G>A | ENSP00000260227.4:p.Gln83= | |
ENST00000531200.1:n.296G>A | ||
ENST00000533366.5:n.299G>A | ||
NM_002423.3:c.249G>A | NP_002414.1:p.Gln83= | |
NM_002423.4:c.249G>A | NP_002414.1:p.Gln83= | |
NM_002423.5:c.249G>A MANE Select | NP_002414.1:p.Gln83= |