HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133366076A>C , CM000672.2:g.133366076A>C | GRCh38 |
NC_000010.10:g.135179580A>C , CM000672.1:g.135179580A>C | GRCh37 |
NC_000010.9:g.135029570A>C | NCBI36 |
NG_042077.1:g.12329T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368547.4:c.639T>G MANE Select | ENSP00000357535.3:p.Cys213Trp | |
ENST00000368547.3:c.639T>G | ENSP00000357535.3:p.Cys213Trp | |
NM_004092.3:c.639T>G | NP_004083.3:p.Cys213Trp | |
XR_002956965.1:n.1495T>G | ||
NM_004092.4:c.639T>G MANE Select | NP_004083.3:p.Cys213Trp |