HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443838C>T , CM000668.2:g.32443838C>T | GRCh38 |
NC_000006.11:g.32411615C>T , CM000668.1:g.32411615C>T | GRCh37 |
NC_000006.10:g.32519593C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.693C>T MANE Select | ENSP00000378786.2:p.Ile231= | |
ENST00000374982.5:c.618C>T | ENSP00000364121.5:p.Ile206= | |
ENST00000395388.6:c.693C>T | ENSP00000378786.2:p.Ile231= | |
NM_019111.4:c.693C>T | NP_061984.2:p.Ile231= | |
NM_019111.5:c.693C>T MANE Select | NP_061984.2:p.Ile231= |