HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443442G>C , CM000668.2:g.32443442G>C | GRCh38 |
NC_000006.11:g.32411219G>C , CM000668.1:g.32411219G>C | GRCh37 |
NC_000006.10:g.32519197G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.586G>C MANE Select | ENSP00000378786.2:p.Asp196His | |
ENST00000374982.5:c.511G>C | ENSP00000364121.5:p.Asp171His | |
ENST00000395388.6:c.586G>C | ENSP00000378786.2:p.Asp196His | |
NM_019111.4:c.586G>C | NP_061984.2:p.Asp196His | |
NM_019111.5:c.586G>C MANE Select | NP_061984.2:p.Asp196His |