HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128345578C>T , CM000667.2:g.128345578C>T | GRCh38 |
NC_000005.9:g.127681270C>T , CM000667.1:g.127681270C>T | GRCh37 |
NC_000005.8:g.127709169C>T | NCBI36 |
NG_008750.1:g.197466G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.2996G>A MANE Select | ENSP00000262464.4:p.Arg999His | |
ENST00000262464.8:c.2996G>A | ENSP00000262464.4:p.Arg999His | |
ENST00000508053.5:c.2996G>A | ENSP00000424571.1:p.Arg999His | |
ENST00000508989.5:c.2897G>A | ENSP00000425596.1:p.Arg966His | |
ENST00000619499.4:c.2993G>A | ENSP00000482132.1:p.Arg998His | |
NM_001999.3:c.2996G>A | NP_001990.2:p.Arg999His | |
XM_017009228.2:c.2843G>A | XP_016864717.1:p.Arg948His | |
NM_001999.4:c.2996G>A MANE Select | NP_001990.2:p.Arg999His |