HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273808C>G , CM000672.2:g.80273808C>G | GRCh38 |
NC_000010.10:g.82033564C>G , CM000672.1:g.82033564C>G | GRCh37 |
NC_000010.9:g.82023544C>G | NCBI36 |
NG_008083.1:g.20871G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.1161G>C MANE Select | ENSP00000361287.3:p.Trp387Cys | |
ENST00000372213.7:c.1161G>C | ENSP00000361287.3:p.Trp387Cys | |
ENST00000480845.1:n.393G>C | ||
ENST00000485270.5:n.673G>C | ||
NM_000429.2:c.1161G>C | NP_000420.1:p.Trp387Cys | |
XM_005269842.3:c.1161G>C | XP_005269899.1:p.Trp387Cys | |
XM_005269843.3:c.1038G>C | XP_005269900.1:p.Trp346Cys | |
NM_000429.3:c.1161G>C MANE Select | NP_000420.1:p.Trp387Cys |