HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586490G>C , CM000673.2:g.67586490G>C | GRCh38 |
NC_000011.9:g.67353961G>C , CM000673.1:g.67353961G>C | GRCh37 |
NC_000011.8:g.67110537G>C | NCBI36 |
NG_012075.1:g.7896G>C , LRG_723:g.7896G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.438G>C | ENSP00000381604.1:p.Gly146= | |
ENST00000398606.10:c.546G>C MANE Select | ENSP00000381607.3:p.Gly182= | |
ENST00000646888.1:c.*262G>C | ENSP00000494477.1:n.*262G>C | |
ENST00000398603.5:c.438G>C | ENSP00000381604.1:p.Gly146= | |
ENST00000398606.7:c.546G>C | ENSP00000381607.3:p.Gly182= | |
ENST00000467591.1:n.657G>C | ||
ENST00000494593.1:n.1518G>C | ||
ENST00000498765.5:c.609G>C | ||
NM_000852.3:c.546G>C , LRG_723t1:c.546G>C | NP_000843.1:p.Gly182= | |
NM_000852.4:c.546G>C MANE Select | NP_000843.1:p.Gly182= |