HGVS | Genome Assembly |
---|---|
NC_000006.12:g.143485192A>C , CM000668.2:g.143485192A>C | GRCh38 |
NC_000006.11:g.143806329A>C , CM000668.1:g.143806329A>C | GRCh37 |
NC_000006.10:g.143848022A>C | NCBI36 |
NG_008459.1:g.39412A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367591.5:c.982A>C MANE Select | ENSP00000356563.4:p.Ile328Leu | |
ENST00000367591.4:c.982A>C | ENSP00000356563.4:p.Ile328Leu | |
ENST00000585848.1:n.121A>C | ||
NM_003630.2:c.982A>C | NP_003621.1:p.Ile328Leu | |
NM_003630.3:c.982A>C MANE Select | NP_003621.1:p.Ile328Leu |