HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33669046G>C , CM000668.2:g.33669046G>C | GRCh38 |
NC_000006.11:g.33636823G>C , CM000668.1:g.33636823G>C | GRCh37 |
NC_000006.10:g.33744801G>C | NCBI36 |
NG_027729.1:g.52668G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.2079G>C MANE Select | ENSP00000475177.1:p.Trp693Cys | |
ENST00000374316.9:c.2079G>C | ENSP00000363435.4:p.Trp693Cys | |
ENST00000605930.2:c.2079G>C | ENSP00000475177.1:p.Trp693Cys | |
NM_002224.3:c.2079G>C | NP_002215.2:p.Trp693Cys | |
XM_011514576.1:c.2148G>C | XP_011512878.1:p.Trp716Cys | |
XM_011514577.1:c.1896G>C | XP_011512879.1:p.Trp632Cys | |
XM_011514577.3:c.1896G>C | XP_011512879.1:p.Trp632Cys | |
XM_017010832.1:c.2079G>C | XP_016866321.1:p.Trp693Cys | |
NM_002224.4:c.2079G>C MANE Select | NP_002215.2:p.Trp693Cys |