HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443873G>A , CM000668.2:g.32443873G>A | GRCh38 |
NC_000006.11:g.32411650G>A , CM000668.1:g.32411650G>A | GRCh37 |
NC_000006.10:g.32519628G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000395388.7:c.728G>A MANE Select | ENSP00000378786.2:p.Arg243His | |
ENST00000374982.5:c.653G>A | ENSP00000364121.5:p.Arg218His | |
ENST00000395388.6:c.728G>A | ENSP00000378786.2:p.Arg243His | |
NM_019111.4:c.728G>A | NP_061984.2:p.Arg243His | |
NM_019111.5:c.728G>A MANE Select | NP_061984.2:p.Arg243His |