HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4863113T>A , CM000666.2:g.4863113T>A | GRCh38 |
NC_000004.11:g.4864840T>A , CM000666.1:g.4864840T>A | GRCh37 |
NC_000004.10:g.4915741T>A | NCBI36 |
NG_008121.1:g.8449T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.882T>A MANE Select | ENSP00000372170.4:p.His294Gln | |
ENST00000382723.4:c.882T>A | ENSP00000372170.4:p.His294Gln | |
NM_002448.3:c.882T>A MANE Select | NP_002439.2:p.His294Gln |