HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123657C>A , CM000679.2:g.72123657C>A | GRCh38 |
NC_000017.10:g.70119798C>A , CM000679.1:g.70119798C>A | GRCh37 |
NC_000017.9:g.67631393C>A | NCBI36 |
NG_012490.1:g.7638C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.800C>A MANE Select | ENSP00000245479.2:p.Pro267His | |
ENST00000245479.2:c.800C>A | ENSP00000245479.2:p.Pro267His | |
NM_000346.3:c.800C>A | NP_000337.1:p.Pro267His | |
NM_000346.4:c.800C>A MANE Select | NP_000337.1:p.Pro267His |