HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145893A>C , CM000668.2:g.24145893A>C | GRCh38 |
NC_000006.11:g.24146121A>C , CM000668.1:g.24146121A>C | GRCh37 |
NC_000006.10:g.24254100A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378491.9:c.535A>C MANE Select | ENSP00000367752.4:p.Ile179Leu | |
ENST00000378478.5:c.535A>C | ENSP00000367739.2:p.Ile179Leu | |
ENST00000378491.8:c.535A>C | ENSP00000367752.4:p.Ile179Leu | |
ENST00000468195.2:n.257-8878A>C | ||
NM_080723.4:c.535A>C | NP_542454.3:p.Ile179Leu | |
NM_080723.5:c.535A>C MANE Select | NP_542454.3:p.Ile179Leu |