HGVS | Genome Assembly |
---|---|
NC_000004.12:g.6301739G>C , CM000666.2:g.6301739G>C | GRCh38 |
NC_000004.11:g.6303466G>C , CM000666.1:g.6303466G>C | GRCh37 |
NC_000004.10:g.6354367G>C | NCBI36 |
NG_011700.1:g.36890G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682275.1:c.1980G>C | ENSP00000507852.1:p.Trp660Cys | |
ENST00000683395.1:c.1921G>C | ||
ENST00000684087.1:c.1944G>C | ENSP00000506978.1:p.Trp648Cys | |
ENST00000506362.2:c.1695G>C | ENSP00000424103.2:p.Trp565Cys | |
ENST00000673642.1:c.1603G>C | ENSP00000501242.1:n.1603G>C | |
ENST00000673991.1:c.1980G>C | ENSP00000501033.1:p.Trp660Cys | |
ENST00000226760.5:c.1944G>C MANE Select | ENSP00000226760.1:p.Trp648Cys | |
ENST00000503569.5:c.1944G>C | ENSP00000423337.1:p.Trp648Cys | |
ENST00000507765.1:n.2129G>C | ||
NM_001145853.1:c.1944G>C | NP_001139325.1:p.Trp648Cys | |
NM_006005.3:c.1944G>C MANE Select | NP_005996.2:p.Trp648Cys | |
XM_017008586.1:c.1953G>C | XP_016864075.1:p.Trp651Cys |