HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586487G>C , CM000673.2:g.67586487G>C | GRCh38 |
NC_000011.9:g.67353958G>C , CM000673.1:g.67353958G>C | GRCh37 |
NC_000011.8:g.67110534G>C | NCBI36 |
NG_012075.1:g.7893G>C , LRG_723:g.7893G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.435G>C | ENSP00000381604.1:p.Val145= | |
ENST00000398606.10:c.543G>C MANE Select | ENSP00000381607.3:p.Val181= | |
ENST00000646888.1:c.*259G>C | ENSP00000494477.1:n.*259G>C | |
ENST00000398603.5:c.435G>C | ENSP00000381604.1:p.Val145= | |
ENST00000398606.7:c.543G>C | ENSP00000381607.3:p.Val181= | |
ENST00000467591.1:n.654G>C | ||
ENST00000494593.1:n.1515G>C | ||
ENST00000498765.5:c.606G>C | ||
NM_000852.3:c.543G>C , LRG_723t1:c.543G>C | NP_000843.1:p.Val181= | |
NM_000852.4:c.543G>C MANE Select | NP_000843.1:p.Val181= |