HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4863047C= , CM000666.2:g.4863047C= | GRCh38 |
NC_000004.11:g.4864774C= , CM000666.1:g.4864774C= | GRCh37 |
NC_000004.10:g.4915675C= | NCBI36 |
NG_008121.1:g.8383C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.816C= MANE Select | ENSP00000372170.4:p.Tyr272= | |
ENST00000382723.4:c.816C= | ENSP00000372170.4:p.Tyr272= | |
NM_002448.3:c.816C= MANE Select | NP_002439.2:p.Tyr272= |