HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763739G>A , CM000674.2:g.57763739G>A | GRCh38 |
NC_000012.11:g.58157522G>A , CM000674.1:g.58157522G>A | GRCh37 |
NC_000012.10:g.56443789G>A | NCBI36 |
NG_007076.1:g.8455C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1366C>T | ENSP00000518840.1:p.Arg456Cys | |
ENST00000713545.1:c.*290C>T | ENSP00000518841.1:n.*290C>T | |
ENST00000228606.9:c.1285C>T MANE Select | ENSP00000228606.4:p.Arg429Cys | |
ENST00000228606.8:c.1285C>T | ENSP00000228606.4:p.Arg429Cys | |
ENST00000547344.5:n.1424C>T | ||
NM_000785.3:c.1285C>T | NP_000776.1:p.Arg429Cys | |
NM_000785.4:c.1285C>T MANE Select | NP_000776.1:p.Arg429Cys |