HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519029C>A , CM000674.2:g.52519029C>A | GRCh38 |
NC_000012.11:g.52912813C>A , CM000674.1:g.52912813C>A | GRCh37 |
NC_000012.10:g.51199080C>A | NCBI36 |
NG_008297.1:g.6431G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.687G>T MANE Select | ENSP00000252242.4:p.Gln229His | |
ENST00000252242.8:c.687G>T | ENSP00000252242.4:p.Gln229His | |
ENST00000549420.1:c.357G>T | ENSP00000447209.1:p.Gln119His | |
ENST00000551013.1:n.215G>T | ||
ENST00000551188.5:c.89G>T | ||
ENST00000552629.5:n.785G>T | ||
NM_000424.3:c.687G>T | NP_000415.2:p.Gln229His | |
NM_000424.4:c.687G>T MANE Select | NP_000415.2:p.Gln229His |