HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80674992C>A , CM000667.2:g.80674992C>A | GRCh38 |
NC_000005.9:g.79970811C>A , CM000667.1:g.79970811C>A | GRCh37 |
NC_000005.8:g.80006567C>A | NCBI36 |
NG_016607.1:g.25518C>A | |
NG_016607.2:g.25518C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1037C>A MANE Select | ENSP00000265081.6:p.Pro346His | |
ENST00000658259.1:c.869C>A | ENSP00000499617.1:p.Pro290His | |
ENST00000667069.1:c.1037C>A | ENSP00000499502.1:p.Pro346His | |
ENST00000670357.1:c.1037C>A | ENSP00000499791.1:p.Pro346His | |
ENST00000265081.6:c.1037C>A | ENSP00000265081.6:p.Pro346His | |
NM_002439.4:c.1037C>A | NP_002430.3:p.Pro346His | |
NM_002439.5:c.1037C>A MANE Select | NP_002430.3:p.Pro346His |