HGVS | Genome Assembly |
---|---|
NC_000004.12:g.103656306G>A , CM000666.2:g.103656306G>A | GRCh38 |
NC_000004.11:g.104577463G>A , CM000666.1:g.104577463G>A | GRCh37 |
NC_000004.10:g.104796912G>A | NCBI36 |
NG_023344.1:g.68511C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304883.3:c.776C>T MANE Select | ENSP00000303325.2:p.Pro259Leu | |
ENST00000304883.2:c.776C>T | ENSP00000303325.2:p.Pro259Leu | |
NM_001059.2:c.776C>T | NP_001050.1:p.Pro259Leu | |
NM_001059.3:c.776C>T MANE Select | NP_001050.1:p.Pro259Leu |