HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133366024T>A , CM000672.2:g.133366024T>A | GRCh38 |
NC_000010.10:g.135179528T>A , CM000672.1:g.135179528T>A | GRCh37 |
NC_000010.9:g.135029518T>A | NCBI36 |
NG_042077.1:g.12381A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368547.4:c.691A>T MANE Select | ENSP00000357535.3:p.Ser231Cys | |
ENST00000368547.3:c.691A>T | ENSP00000357535.3:p.Ser231Cys | |
NM_004092.3:c.691A>T | NP_004083.3:p.Ser231Cys | |
XR_002956965.1:n.1547A>T | ||
NM_004092.4:c.691A>T MANE Select | NP_004083.3:p.Ser231Cys |