HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940087A>C , CM000678.2:g.67940087A>C | GRCh38 |
NC_000016.9:g.67973990A>C , CM000678.1:g.67973990A>C | GRCh37 |
NC_000016.8:g.66531491A>C | NCBI36 |
NG_009778.1:g.9026T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.1140T>G MANE Select | ENSP00000264005.5:p.Cys380Trp | |
ENST00000264005.9:c.1140T>G | ENSP00000264005.5:p.Cys380Trp | |
ENST00000570369.5:c.156-13T>G | ||
ENST00000573538.5:c.878T>G | ENSP00000463220.1:n.878T>G | |
NM_000229.1:c.1140T>G | NP_000220.1:p.Cys380Trp | |
NM_000229.2:c.1140T>G MANE Select | NP_000220.1:p.Cys380Trp |